H673 Degenerative Myelopathy, DM/info-lgs@agrotis.it

Degenerative Encephalopathy (DEN)

Degenerative Encephalopathy with Sleep Disorders and Caudate Necrosis or simply Degenerative Encephalopathy (DEN) is a neurological condition that affects the nervous system and leads to progressive degeneration or complete destruction of neurons in the brain, specifically in the region of the brain that is important in controlling movement and some aspects of behaviour.

This neurodegenerative disease has an autosomal recessive inheritance and is observed in the Nova Scotia Duck Tolling Retriever (NSDTR, Toller).

Spongiform Leukoencephalomyelopathy (SLEM) – Border Terrier (External Lab)

La leucoencefalomielopatía espongiforme (SLEM), también conocida como síndrome del cachorro tembloroso (SPS), es una enfermedad autosómica recesiva de la raza Border Terrier. Los cachorros con esta enfermedad muestran un temblor incontrolable de sus extremidades traseras tan pronto como intentan ponerse de pie y caminar por primera vez. A medida que los cachorros crecen, los temblores pueden extenderse a todo el cuerpo y el pronóstico es generalmente malo.

Mielopatía degenerativa Exón 2 (DM Exón 2)

La mielopatía degenerativa canina (DM) es una enfermedad neurodegenerativa progresiva incurable de la médula espinal. Las enfermedades neurodegenerativas se caracterizan por la pérdida progresiva de neuronas en el sistema nervioso central (SNC), lo que conduce a deficiencias en la función. En el caso de la DM, la región afectada es la médula espinal, lo que provoca ataxia (pérdida de coordinación). La DM es similar en muchos aspectos a la esclerosis lateral amiotrófica (ELA) en los seres humanos.

Esta variante de la enfermedad, a veces designada como SOD1B o como Mielopatía Degenerativa Exón 2, se presenta en muchas razas diferentes. Está causada por una mutación autosómica recesiva con penetrancia incompleta en el gen SOD1. Aunque la mutación se encuentra en muchas razas, la enfermedad rara vez se diagnostica en razas o en perros mestizos que no sean los mencionados para esta prueba. También se ha observado una variante relacionada específica del boyero bernés. Al realizar la prueba de DM a un boyero de Berna, es importante realizar la prueba de ambas variantes, en lugar de solo una.

SynchroGait (DMRT3-related)

All horses have three naturally occurring gaits (walk, trot and gallop). Some breeds (the gaited breeds) exhibit one or more additional gaits, particularly at intermediate speeds. This ability to exhibit alternate forms of gait is called gaitedness and the DNA test for this trait is known as SynchroGait. A mutation is found in the doublesex and mab-3 related transcription factor 3 (DMRT3) gene. This gene plays a crucial role in the development of the spinal cord neurons that control limb movement and locomotion. Specifically, the gene is involved in the formation of inhibitory interneurons in the spinal cord, which are critical for coordinating muscle movements during various gaits. The mutation is seen as a major genetic factor and is seen in many horse breeds.

Distrofia Muscular Congénita (DMC) – Galgo Italiano

La distrofia muscular congénita (CMD o DM) es un trastorno muscular que causa atrofia y crecimiento deficiente. Esta variante particular de la enfermedad es causada por una mutación recesiva en el gen LAMA2. La variante analizada en estas pruebas se da en el galgo italiano. Una variante relacionada también ocurre en el Staffordshire Bull Terrier.

Mielopatía Degenerativa Exón 1 (DM Exón 1) – Boyero de Berna

La mielopatía degenerativa canina (DM) es una enfermedad neurodegenerativa progresiva incurable de la médula espinal. Las enfermedades neurodegenerativas se caracterizan por la pérdida progresiva de neuronas en el sistema nervioso central (SNC), lo que conduce a deficiencias en la función. En el caso de la DM, la región afectada es la médula espinal, lo que provoca ataxia (pérdida de coordinación). La DM es similar en muchos aspectos a la esclerosis lateral amiotrófica (ELA) en los seres humanos.

Esta variante de la enfermedad, conocida como SOD1A o como Mielopatía Degenerativa Exón 1, se presenta específicamente en el Boyero de Berna. Está causada por una mutación autosómica recesiva con penetrancia incompleta en el gen SOD1. Se ha observado una variante relacionada en una amplia gama de razas. Al realizar la prueba de DM a un boyero de Berna, es importante realizar la prueba de ambas variantes, en lugar de solo una.

Mielopatía degenerativa Exón 2 (DM Exón 2) (Laboratorio externo con de Patente)

La mielopatía degenerativa canina (DM) es una enfermedad neurodegenerativa progresiva incurable de la médula espinal. Las enfermedades neurodegenerativas se caracterizan por la pérdida progresiva de neuronas en el sistema nervioso central (SNC), lo que conduce a deficiencias en la función. En el caso de la DM, la región afectada es la médula espinal, lo que provoca ataxia (pérdida de coordinación). La DM es similar en muchos aspectos a la esclerosis lateral amiotrófica (ELA) en los seres humanos.

Esta variante de la enfermedad, a veces designada como SOD1B o como Mielopatía Degenerativa Exón 2, se presenta en muchas razas diferentes. Es probablemente causada por una mutación autosómica recesiva con penetrancia incompleta en el gen SOD1. La variante se encuentra en muchas razas, pero la enfermedad rara vez se diagnostica en razas o en perros mestizos que no sean los mencionados para esta prueba.

Alfa-manosidosis (DMAE) – Doberman

La alfa-manosidosis (DMAE) es una enfermedad metabólica grave que afecta al sistema nervioso central, lo que provoca pérdida de coordinación, temblores y, en última instancia, la muerte. El trastorno es causado por una mutación recesiva en el gen MAN2B1 y se encuentra en el Doberman.

Alfa-manosidosis (DMAE) – Gato

La alfa-manosidosis (DMAE) es una enfermedad metabólica grave que afecta al sistema nervioso central, lo que provoca pérdida de coordinación, temblores y, en última instancia, la muerte. En los gatos, la enfermedad es causada por una mutación recesiva del gen MAN2B1. La variante analizada en esta prueba se presenta principalmente en el gato persa y razas relacionadas.

Distrofia Muscular-Distroglicanopatía (TDM) – Labrador Retriever

La distrofia muscular-distroglicanopatía (TDM) es un trastorno muscular grave que causa debilidad, retraso en el crecimiento y, a menudo, la muerte. Esta variante, que se encuentra en el Labrador Retriever, está causada por una mutación recesiva en el gen LARGE1.

Dun dilution

The Dun dilution gene lightens the coat colour of the horse by lightening the body colour, leaving the head, lower legs, mane and tail undiluted. Dun también se caracteriza típicamente por marcas primitivas, casi todos los caballos dun poseen al menos la franja dorsal, pero la presencia de las otras marcas primitivas varía. Other common markings may include horizontal striping on the legs, transverse striping across the shoulders, and lighter guard hairs along the edges of a dark mane and tail. El color del pelaje diluido de Dun con marcas primitivas se considera el color de tipo salvaje y se encuentra en équidos silvestres como los caballos przewalski. Dun dilutes both red and black pigment, and the resulting colors range from apricot, golden, dark gray, olive and many more subtle variations. A horse can also carry mutations for other modifying genes which can further affect its coat colour. The Coat Colour Dun dilution test (P660) tests for the genetic status of the TBX3 gene. This gene has three variants (alleles); allele D is dominant over the alleles nd1 and nd2; allele nd1 is dominant over nd2. The dominant allele D results in Dun dilution with primitive markings. Allele nd1 does not dilute the coat colour of the horse, primitive markings are present but the expression is variable. Allele nd2 does not have an effect on the basic colour.

The Coat Colour Dun dilution test encloses the following results, in this scheme the results of the Coat Colour Dun dilution test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Dun dilution	Result Chestnut + Agouti	Coat Colour	Descripción
nd2/nd2	e/e + A/A, A/a or a/a	Chestnut, Sorrel. No primitive markings	Two copies of the nd2 allele. Coat colour is not diluted and primitive markings are absent. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele nd2 to its offspring.
nd2/nd2	E/E or E/e + A/A or A/a	Bay, Brown. No primitive markings	Two copies of the nd2 allele. Coat colour is not diluted and primitive markings are absent. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele nd2 to its offspring.
nd2/nd2	E/E or E/e + a/a	Black. No primitive markings	Two copies of the nd2 allele. Coat colour is not diluted and primitive markings are absent. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele nd2 to its offspring.
nd1/nd2	e/e + A/A, A/a or a/a	Chestnut, Sorrel. Primitive markings may be present	One copy of the nd1 allele and one copy of the nd2 allele. The nd1 allele is dominant over the nd2 allele. Coat colour is not diluted. Primitive markings may be present. The colour can be further modified by other colour modifying genes. It can pass on either allele nd1 or nd2 to its offspring.
nd1/nd2	E/E or E/e + A/A or A/a	Bay, Brown. Primitive markings may be present	One copy of the nd1 allele and one copy of the nd2 allele. The nd1 allele is dominant over the nd2 allele. Coat colour is not diluted. Primitive markings may be present. The colour can be further modified by other colour modifying genes. It can pass on either allele nd1 or nd2 to its offspring.
nd1/nd2	E/E or E/e + a/a	Black. Primitive markings may be present	One copy of the nd1 allele and one copy of the nd2 allele. The nd1 allele is dominant over the nd2 allele. Coat colour is not diluted. Primitive markings may be present. The colour can be further modified by other colour modifying genes. It can pass on either allele nd1 or nd2 to its offspring.
nd1/nd1	e/e + A/A, A/a or a/a	Chestnut, Sorrel. Primitive markings may be present	Two copies of the nd1 allele. Coat colour is not diluted. Primitive markings may be present. The colour can be further modified by other colour modifying genes. It can only pass on allele nd1 to its offspring.
nd1/nd1	E/E or E/e + A/A or A/a	Bay, Brown. Primitive markings may be present	Two copies of the nd1 allele. Coat colour is not diluted. Primitive markings may be present. The colour can be further modified by other colour modifying genes. It can only pass on allele nd1 to its offspring.
nd1/nd1	E/E or E/e + a/a	Black. Primitive markings may be present	Two copies of the nd1 allele. Coat colour is not diluted. Primitive markings may be present. The colour can be further modified by other colour modifying genes. It can only pass on allele nd1 to its offspring.
D/nd2	e/e + A/A, A/a or a/a	Red dun. With primitive markings	One copy of the dominant D allele and one copy of the nd2 allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can pass on either allele D or nd2 to its offspring.
D/nd2	E/E or E/e + A/A or A/a	Bay dun. With primitive markings	One copy of the dominant D allele and one copy of the nd2 allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can pass on either allele D or nd2 to its offspring.
D/nd2	E/E or E/e + a/a	Blue dun. With primitive markings	One copy of the dominant D allele and one copy of the nd2 allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can pass on either allele D or nd2 to its offspring.
D/nd1	e/e + A/A, A/a or a/a	Red dun. With primitive markings	One copy of the dominant D allele and one copy of the nd1 allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can pass on either allele D or nd1 to its offspring.
D/nd1	E/E or E/e + A/A or A/a	Bay dun. With primitive markings	One copy of the dominant D allele and one copy of the nd1 allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can pass on either allele D or nd1 to its offspring.
D/nd1	E/E or E/e + a/a	Blue dun. With primitive markings	One copy of the dominant D allele and one copy of the nd1 allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can pass on either allele D or nd1 to its offspring.
D/D	e/e + A/A, A/a or a/a	Red dun. With primitive markings	Two copies of the dominant D allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can only pass on allele D to its offspring.
D/D	E/E or E/e + A/A or A/a	Bay, Classic, Zebra dun. With primitive markings	Two copies of the dominant D allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can only pass on allele D to its offspring.
D/D	E/E or E/e + a/a	Blue, Mouse dun. With primitive markings	Two copies of the dominant D allele. Coat colour is dun-diluted with primitive markings. The colour can be further modified by other colour modifying genes. It can only pass on allele D to its offspring.

Roan

Roan is a white patterning coat colour trait of intermixed white and coloured hairs in the body while the head, lower legs, mane and tail remain colored. Los caballos Ruano nacen con el patrón, aunque puede que no sea obvio hasta que se desprenda el pelaje. Los pelos blancos y de colores se mezclan de manera uniforme en caballos que heredan el gen Ruano clásico, que puede diferenciarlo de varios patrones mímicos llamados roaning. Los patrones ruanos tienden a ser desiguales en la distribución de los pelos blancos y no se ha definido la herencia de la ondulación. La mutación que causa el color de capa Ruano aún no ha sido identificada. La prueba de capa Ruano (P659) analiza los marcadores de ADN que se asocian con el color de la capa Ruano en varias razas. Los marcadores de ADN se pueden utilizar para determinar si un caballo tiene la mutación Ruano y cuántas copias. Esta prueba detecta tres variantes (alelos), Rn, Rn * y N. Es dominante el alelo Rn. Una o dos copias del alelo Rn resultan en un color de capa Ruano. El alelo Rn * es muy infrecuente y no siempre asociado con el color de la capa Ruano, este alelo sólo se ha observado en caballos andadores de Tennessee y caballos de las montañas rocosas. El alelo N es recesivo y no tiene efecto en el color básico.

The Coat Colour Roan test encloses the following results, in this scheme the results of the Coat Colour Roan test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Roan	Result Chestnut + Agouti	Coat Colour	Descripción
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Not Roan. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Not Roan. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Not Roan. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
Rn/N	e/e + A/A, A/a or a/a	Chestnut/sorrel Roan	One copy of the dominant Rn allele. The colour is chestnut/sorrel roan, unless modified by other colour modifying genes. It can pass on either allele N or Rn to its offspring.
Rn/N	E/E or E/e + A/A or A/a	Brown/bay Roan	One copy of the dominant Rn allele. The colour is brown/bay roan, unless modified by other colour modifying genes. It can pass on either allele N or Rn to its offspring.
Rn/N	E/E or E/e + a/a	Black Roan	One copy of the dominant Rn allele. The colour is black roan, unless modified by other colour modifying genes. It can pass on either allele N or Rn to its offspring.
Rn*/N	e/e + A/A, A/a or a/a	Chestnut/sorrel or Chestnut/sorrel Roan	One copy of the uncommon Rn* allele. The colour can be chestnut/sorrel or chestnut/sorrel roan, unless modified by other colour modifying genes. It can pass on either allele N or Rn* to its offspring.
Rn*/N	E/E or E/e + A/A or A/a	Brown/bay or Brown/bay Roan	One copy of the uncommon Rn* allele. The colour can be brown/bay or brown/bay roan, unless modified by other colour modifying genes. It can pass on either allele N or Rn* to its offspring.
Rn*/N	E/E or E/e + a/a	Black or Black Roan	One copy of the uncommon Rn* allele. The colour can be black or black roan, unless modified by other colour modifying genes. It can pass on either allele N or Rn* to its offspring.
Rn/Rn	e/e + A/A, A/a or a/a	Chestnut/sorrel Roan	Two copies of the dominant Rn allele. The colour is chestnut/sorrel roan, unless modified by other colour modifying genes. It can only pass on allele Rn to its offspring.
Rn/Rn	E/E or E/e + A/A or A/a	Brown/bay Roan	Two copies of the dominant Rn allele. The colour is brown/bay roan, unless modified by other colour modifying genes. It can only pass on allele Rn to its offspring.
Rn/Rn	E/E or E/e + a/a	Black Roan	Two copies of the dominant Rn allele. The colour is black roan, unless modified by other colour modifying genes. It can only pass on allele Rn to its offspring.
Rn/Rn*	e/e + A/A, A/a or a/a	Chestnut/sorrel Roan	One copy of the dominant Rn allele and one copy of the uncommon Rn* allele. The colour is chestnut/sorrel roan, unless modified by other colour modifying genes. It can pass on either allele Rn or Rn* to its offspring.
Rn/Rn*	E/E or E/e + A/A or A/a	Brown/bay Roan	One copy of the dominant Rn allele and one copy of the uncommon Rn* allele. The colour is brown/bay roan, unless modified by other colour modifying genes. It can pass on either allele Rn or Rn* to its offspring.
Rn/Rn*	E/E or E/e + a/a	Black Roan	One copy of the dominant Rn allele and one copy of the uncommon Rn* allele. The colour is black roan, unless modified by other colour modifying genes. It can pass on either allele Rn or Rn* to its offspring.
Rn/Rn	e/e + A/A, A/a or a/a	Chestnut/sorrel or Chestnut/sorrel Roan	Two copies of the uncommon Rn* allele. The colour can be chestnut/sorrel or chestnut/sorrel roan, unless modified by other colour modifying genes. It can only pass on allele Rn* to its offspring.
Rn/Rn	E/E or E/e + A/A or A/a	Brown/bay or Brown/bay Roan	Two copies of the uncommon Rn* allele. The colour can be brown/bay or brown/bay roan, unless modified by other colour modifying genes. It can only pass on allele Rn* to its offspring.
Rn/Rn	E/E or E/e + a/a	Black or Black Roan	Two copies of the uncommon Rn* allele. The colour can be black or black roan, unless modified by other colour modifying genes. It can only pass on allele Rn* to its offspring.

Cream dilution

The cream dilution gene has an effect on both red and black pigment and dilutes the basic coat colour to lighter coat shades. In several breeds this is considered a desirable trait. The Cream dilution gene is responsible for the palomino, buckskin, smoky black, cremello, perlino and smoky cream coat colours. A horse can also carry mutations for other modifying genes which can further affect its coat colour. The Coat Colour Cream dilution test (P713) tests for the genetic status of the MATP gene. The MATP gene has two variants (alleles). The allele Cr is semi-dominant. One copy of the Cr allele dilutes the coat colour with a single dose, resulting in palomino, buckskin or smoky black. Two copies of the Cr allele dilute the coat colour with a double dose into cremello, perlino or smoky cream. The effect on black pigment might be very subtle. Los caballos con dos copias del alelo Cr también se denominan doble dilución o de ojos azules y crema y comparten una serie de características. The eyes are pale blue, paler than the unpigmented blue eyes associated with white color or white markings, and the skin is rosy-pink. El alelo N es recesivo y no tiene efecto en el color básico.

The Coat Colour Cream dilution test encloses the following results, in this scheme the results of the Coat Colour Cream dilution test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Cream dilution	Result Chestnut + Agouti	Coat Colour	Descripción
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Non-dilute. The basic colour is chestnut or sorrel unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Non-dilute. The basic colour is bay or brown unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Non-dilute. The basic colour is black unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/Cr	e/e + A/A, A/a or a/a	Palomino	Heterozygous dilute, one copy of the Cr allele. The basic coat colour chestnut/sorrel is diluted to palomino. These colours can be further modified by other colour modifying genes. It can pass on either allele N or Cr to its offspring.
N/Cr	E/E or E/e + A/A or A/a	Buckskin	Heterozygous dilute, one copy of the Cr allele. The basic coat colour bay/brown is diluted to buckskin. These colours can be further modified by other colour modifying genes. It can pass on either allele N or Cr to its offspring.
N/Cr	E/E or E/e + a/a	Smoky Black	Heterozygous dilute, one copy of the Cr allele. The basic coat colour black is diluted to Smoky Black. These colours can be further modified by other colour modifying genes. It can pass on either allele N or Cr to its offspring.
Cr/Cr	e/e + A/A, A/a or a/a	Cremello	Double dilute, two copies of the Cr allele. The basic coat colour chestnut/sorrel is diluted to Cremello. These colours can be further modified by other colour modifying genes. It can only pass on allele Cr to its offspring.
Cr/Cr	E/E or E/e + A/A or A/a	Perlino	Double dilute, two copies of the Cr allele. The basic coat colour bay/brown is diluted to Perlino. These colours can be further modified by other colour modifying genes. It can only pass on allele Cr to its offspring.
Cr/Cr	E/E or E/e + a/a	Smoky Cream	Double dilute, two copies of the Cr allele. The basic coat colour black is diluted to Smoky Cream. These colours can be further modified by other colour modifying genes. It can only pass on allele Cr to its offspring.

Tobiano

The Tobiano coat pattern usually involves white on all four legs below the hocks and knees and rounded white spots on the body with sharp, clean edges. La cabeza es oscura, con marcas blancas como las de un caballo de color sólido. El blanco en el cuerpo generalmente cruzará la línea superior del caballo. La piel subyacente a las manchas blancas es rosada y debajo de las áreas coloreadas es negra. Los ojos suelen ser marrones, pero uno o ambos pueden ser azules o parcialmente azules. The tail can be two colors, a characteristic seldom seen in horses that are not tobiano. A horse can also carry mutations for other modifying genes which can further affect its coat colour.

The Coat Colour Tobiano test (P903) tests for a genetic factor that affects the function of the KIT gene. Este gen tiene dos variantes (alelos). El alelo dominante TO da como resultado el patrón de Tobiano y el alelo recesivo N no tiene un efecto sobre el color básico.

The Coat Colour Tobiano test encloses the following results, in this scheme the results of the Coat Colour Tobiano test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Tobiano	Result Chestnut + Agouti	Coat Colour	Descripción
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Not Tobiano. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Not Tobiano. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Not Tobiano. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/TO	e/e + A/A, A/a or a/a	Chestnut/sorrel tobiano	One copy of the dominant TO allele. The colour is chestnut/sorrel tobiano unless modified by other colour modifying genes. It can pass on either allele N or TO to its offspring.
N/TO	E/E or E/e + A/A or A/a	Bay/brown tobiano	One copy of the dominant TO allele. The colour is bay/brown tobiano unless modified by other colour modifying genes. It can pass on either allele N or TO to its offspring.
N/TO	E/E or E/e + a/a	Black tobiano	One copy of the dominant TO allele. The colour is black tobiano unless modified by other colour modifying genes. It can pass on either allele N or TO to its offspring.
TO/TO	e/e + A/A, A/a or a/a	Chestnut/sorrel tobiano	Two copies of the dominant TO allele. The colour is chestnut/sorrel tobiano unless modified by other colour modifying genes. It can only pass on allele TO to its offspring.
TO/TO	E/E or E/e + A/A or A/a	Bay/brown tobiano	Two copies of the dominant TO allele. The colour is bay/brown tobiano unless modified by other colour modifying genes. It can only pass on allele TO to its offspring.
TO/TO	E/E or E/e + a/a	Black tobiano	Two copies of the dominant TO allele. The colour is black tobiano unless modified by other colour modifying genes. It can only pass on allele TO to its offspring.

Dominant White 1

White patterning in horses is known as Dominant White or White. Los patrones dominantes en blanco son variables, desde manchas mínimas tipo Sabino hasta caballos completamente blancos. El color de los ojos de los caballos blancos dominantes es marrón. Hay alrededor de 20 mutaciones diferentes identificadas que están asociadas con patrones blancos, todas las mutaciones se encuentran en el gen KIT. A excepción de W20, la mayoría de las mutaciones blancas dominantes conocidas surgieron recientemente y están restringidas a líneas específicas dentro de razas. La prueba Color de Capa Blanco Dominante 1 (P591) analiza la mutación conocida como W18 en el gen KIT. Esta prueba detecta dos variantes (alelos). El alelo W18 es dominante. Una o dos copias del alelo W18 dan como resultado caballos que muestran cierto grado de manchas blancas, pero el patrón específico no se puede predecir. El alelo N es recesivo y no tiene efecto en el color básico.

The Coat Colour Dominant White 1 test encloses the following results, in this scheme the results of the Coat Colour Dominant White 1 test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Dominant White 1	Result Chestnut + Agouti	Coat Colour	Descripción
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Not Dominant White. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Not Dominant White. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Not Dominant White. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/W18	e/e + A/A, A/a or a/a	Chestnut/sorrel with Dominant White pattern	Dominant White pattern. One copy of the W18 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or W18 to its offspring.
N/W18	E/E or E/e + A/A or A/a	Brown/bay with Dominant White pattern	Dominant White pattern. One copy of the W18 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or W18 to its offspring.
N/W18	E/E or E/e + a/a	Black with Dominant White pattern	Dominant White pattern. One copy of the W18 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or W18 to its offspring.
W18/W18	e/e + A/A, A/a or a/a	Chestnut/sorrel with Dominant White pattern	Dominant White pattern. Two copies of the W18 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele W18 to its offspring.
W18/W18	E/E or E/e + A/A or A/a	Brown/bay with Dominant White pattern	Dominant White pattern. Two copies of the W18 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele W18 to its offspring.
W18/W18	E/E or E/e + a/a	Black with Dominant White pattern	Dominant White pattern. Two copies of the W18 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele W18 to its offspring.

Dominant White 3

White patterning in horses is known as Dominant White or White. Los patrones dominantes en blanco son variables, desde manchas mínimas tipo Sabino hasta caballos completamente blancos. El color de los ojos de los caballos blancos dominantes es marrón. Hay alrededor de 20 mutaciones diferentes identificadas que están asociadas con patrones blancos, todas las mutaciones se encuentran en el gen KIT. A excepción de W20, la mayoría de las mutaciones blancas dominantes conocidas surgieron recientemente y están restringidas a líneas específicas dentro de razas. La prueba Color de Capa Blanco Dominante 3 (P592) analiza la mutación conocida como W20 en el gen KIT. Esta prueba detecta dos variantes (alelos). El alelo W20 es dominante. Una o dos copias del alelo W20 tienen un efecto sutil sobre la cantidad de blanco expresado. Parece aumentar la expresión del blanco en combinación con otros genes de patrón blanco. El alelo N es recesivo y no tiene efecto en el color básico.

The Coat Colour Dominant White 3 test encloses the following results, in this scheme the results of the Coat Colour Dominant White 3 test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Dominant White 3	Result Chestnut + Agouti	Coat Colour	Descripción
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Not Dominant White. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Not Dominant White. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Not Dominant White. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/W20	e/e + A/A, A/a or a/a	Chestnut/sorrel with Dominant White pattern	Dominant White pattern. One copy of the W20 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or W20 to its offspring.
N/W20	E/E or E/e + A/A or A/a	Brown/bay with Dominant White pattern	Dominant White pattern. One copy of the W20 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or W20 to its offspring.
N/W20	E/E or E/e + a/a	Black with Dominant White pattern	Dominant White pattern. One copy of the W20 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can pass on either allele N or W20 to its offspring.
W20/W20	e/e + A/A, A/a or a/a	Chestnut/sorrel with Dominant White pattern	Dominant White pattern. Two copies of the W20 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele W20 to its offspring.
W20/W20	E/E or E/e + A/A or A/a	Brown/bay with Dominant White pattern	Dominant White pattern. Two copies of the W20 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele W20 to its offspring.
W20/W20	E/E or E/e + a/a	Black with Dominant White pattern	Dominant White pattern. Two copies of the W20 allele. The horse will display some degree of white spotting but the specific pattern cannot be predicted, unless modified by other colour modifying genes. It can only pass on allele W20 to its offspring.

Champagne dilution

The Champagne dilution gene lightens the coat colour of the horse by diluting the pigment. The skin of Champagne-diluted horses is pinkish/lavender toned and becomes speckled with age; the speckling is particularly noticeable around the eye, muzzle, under the tail, udder and sheath. The eye colour is blue-green at birth and darkens to amber as the horse ages. Champagne has the following effects on the basic coat colours of horses:

Chestnut/Sorrel -> Gold champagne: a gold body color and often a flaxen mane and tail. Gold champagne horses are visually similar to palomino horses.

Bay/Brown -> Amber champagne: a tan body color with brown points (sometimes referred to as amber Buckskin).

Black -> Classic champagne: a darker tan body with brown points.

A horse can also carry mutations for other modifying genes which can further affect its coat colour. The Coat Colour Champagne dilution test (P853) tests for the genetic status of the SLC36A1 gene. Este gen tiene dos variantes (alelos). The dominant allele Ch results in the dilution and the recessive allele N does not have an effect on the basic colour.

The Coat Colour Champagne dilution test encloses the following results, in this scheme the results of the Coat Colour Champagne dilution test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Champagne dilution	Result Chestnut + Agouti	Coat Colour	Descripción
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Non-dilute. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Non-dilute. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Non-dilute. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/Ch	e/e + A/A, A/a or a/a	Gold Champagne	One copy of the dominant Ch allele. The basic colour chestnut/sorrel is diluted to gold champagne unless modified by other colour modifying genes. It can pass on either allele N or Ch to its offspring.
N/Ch	E/E or E/e + A/A or A/a	Amber Champagne	One copy of the dominant Ch allele. The basic colour bay/brown is diluted to amber champagne unless modified by other colour modifying genes. It can pass on either allele N or Ch to its offspring.
N/Ch	E/E or E/e + a/a	Classic Champagne	One copy of the dominant Ch allele. The basic colour black is diluted to classic champagne unless modified by other colour modifying genes. It can pass on either allele N or Ch to its offspring.
Ch/Ch	e/e + A/A, A/a or a/a	Gold Champagne	Two copies of the dominant Ch allele. The basic colour chestnut/sorrel is diluted to Gold Champagne unless modified by other colour modifying genes. It can only pass on allele Ch to its offspring.
Ch/Ch	E/E or E/e + A/A or A/a	Amber Champagne	Two copies of the dominant Ch allele. The basic colour bay/brown is diluted to amber champagne unless modified by other colour modifying genes. It can only pass on allele Ch to its offspring.
Ch/Ch	E/E or E/e + a/a	Classic Champagne	Two copies of the dominant Ch allele. The basic colour black is diluted to classic champagne unless modified by other colour modifying genes. It can only pass on allele Ch to its offspring.

Pearl dilution

The Pearl dilution gene lightens the coat colour of the horse by diluting the red pigment. A chestnut basic colour is diluted to a pale, uniform apricot colour of body, mane and tail. Skin coloration is also pale. Pearl dilution is also referred to as the ‘Barlink Factor.’ The Coat Colour Pearl dilution test (P783) tests for the genetic status of the SLC45A2 gene. Este gen tiene dos variantes (alelos). The allele Prl, causing the Pearl dilution is recessive. This means that only horses with two copies of the Prl allele have a lightened coat, mane and tail, in addition to bright eye colors. The dominant allele N does not have an effect on the basic coat colour.

Pearl dilution interacts with Cream dilution to produce pseudo-double dilute phenotypes including pale skin and blue/green eyes. Therefore if a horse has one copy of the Prl allele and Cream dilution (Cr allele) is also present, this results in a pseudo-double dilute, also called pseudo-cremellos or pseudo-smoky cream

A horse can also carry mutations for other modifying genes which can further affect its coat colour.

The Coat Colour Pearl dilution test encloses the following results, in this scheme the results of the Coat Colour Pearl dilution test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Pearl dilution	Result Chestnut + Agouti	Coat Colour	Descripción
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Non-dilute. The basic colour chestnut/sorrel is not diluted unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Non-dilute. The basic colour bay/brown is not diluted unless modified by other colour modifying genes. It can only pass on allele N to its offspring
N/N	E/E or E/e + a/a	Black	Non-dilute. The basic colour black is not diluted unless modified by other colour modifying genes. It can only pass on allele N to its offspring
N/Prl	e/e + A/A, A/a or a/a	Chestnut, Sorrel	One copy of the recessive Prl allele. The basic colour chestnut/sorrel is not diluted unless modified by other colour modifying genes. If cream dilution is also present, this results in a pseudo-double dilute. It can pass on either allele N or Prl to its offspring.
N/Prl	E/E or E/e + A/A or A/a	Bay, Brown	One copy of the recessive Prl allele. The basic colour bay/brown is not diluted unless modified by other colour modifying genes. If cream dilution is also present, this results in a pseudo-double dilute. It can pass on either allele N or Prl to its offspring.
N/Prl	E/E or E/e + a/a	Black	One copy of the recessive Prl allele. The basic colour black not diluted unless modified by other colour modifying genes. If cream dilution is also present, this results in a pseudo-double dilute. It can pass on either allele N or Prl to its offspring.
Prl/Prl	e/e + A/A, A/a or a/a	Pearl dilution	Two copies of the recessive Prl allele. The basic colour chestnut/sorrel is diluted to a pale, uniform apricot colour of body hair, mane and tail. This colour can be further modified by other colour modifying genes. It can only pass on allele Prl to its offspring.
Prl/Prl	E/E or E/e + A/A or A/a	Pearl dilution	Two copies of the recessive Prl allele. The basic colour bay/brown is diluted to lightened coat, mane and tail. This colour can be further modified by other colour modifying genes. It can only pass on allele Prl to its offspring.
Prl/Prl	E/E or E/e + a/a	Pearl dilution	Two copies of the recessive Prl allele. The basic colour black is diluted to lightened coat, mane and tail. This colour can be further modified by other colour modifying genes. It can only pass on allele Prl to its offspring.

Silver dilution / MCOA

The Silver dilution gene dilutes the black pigment but has no effect on the red pigment. El efecto del gen de dilución Plata puede variar mucho. La crin y la cola se abrillantan a lino o gris plata y pueden oscurecer en algunos caballos conforme envejecen. Un caballo negro se diluirá al chocolate con un aclarado de la melena y la cola. Un caballo bahía con dilución Plata tendrá generalmente un aclarado en crines y cola, así como en la parte baja de las patas (lugares con pigmento negro). A horse can also carry mutations for other modifying genes which can further affect its coat colour.

The Coat Colour Silver dilution test (P784) tests for the genetic status of the PMEL17 gene. Este gen tiene dos variantes (alelos). El alelo dominante Z resulta en la dilución y el alelo recesivo N no tiene un efecto sobre el color básico.

The same mutation responsible for the coat color Silver is also associated with Multiple Congenital Ocular Anomalies (MCOA) Syndrome, a wide range of ocular defects that occur in the anterior and posterior parts of the eye. La gravedad del síndrome está relacionada con la dosis, por lo que los caballos con 1 copia del alelo Z tienen menos signos graves que aquellos con 2 copias del alelo Z.

The Coat Colour Silver dilution test encloses the following results, in this scheme the results of the Coat Colour Silver dilution test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Silver dilution	Result Chestnut + Agouti	Coat Colour	Descripción
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Non-dilute. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Non-dilute. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Non-dilute. The basic colour black is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/Z	e/e + A/A, A/a or a/a	Chestnut, Sorrel	One copy of the dominant Z allele. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can pass on either allele N or Z to its offspring.
N/Z	E/E or E/e + A/A or A/a	Silver dilution on Bay or Brown	One copy of the dominant Z allele. The black pigment of bay/brown horses on lower legs is lightened and mane and tail are lightened to flaxen. The colour can be further modified by other colour modifying genes. It can pass on either allele N or Z to its offspring.
N/Z	E/E or E/e + a/a	Chocolate	One copy of the dominant Z allele. The basic colour black is diluted to chocolate with flaxen mane and tail. The colour can be further modified by other colour modifying genes. It can pass on either allele N or Z to its offspring.
Z/Z	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Two copies of the dominant Z allele. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele Z to its offspring.
Z/Z	E/E or E/e + A/A or A/a	Silver dilution on Bay or Brown	Two copies of the dominant Z allele. The black pigment of bay/brown horses on lower legs is lightened and mane and tail are lightened to flaxen. The colour can be further modified by other colour modifying genes. It can only pass on allele Z to its offspring.
Z/Z	E/E or E/e + a/a	Chocolate	Two copies of the dominant Z allele. The basic colour black is diluted to chocolate with flaxen mane and tail. The colour can be further modified by other colour modifying genes. It can only pass on allele Z to its offspring.

Sabino 1

Sabino is a general description for a group of similar white spotting patterns. El patrón sabino se describe como manchas irregulares, por lo general en las piernas, el vientre y la cara, a menudo con un marcado alrededor de los bordes de las marcas blancas. Se ha descubierto una mutación que produce un tipo de patrón sabino, se le ha llamado Sabino1 porque no está presente en todos los caballos con patrón sabino. Probablemente existirán más mutaciones que influyan en otros patrones sabinos. La prueba Color de Capa Sabino 1 (P785) analiza el estado genético del gen KIT. Este gen tiene dos variantes (alelos). El alelo SB1 es semi- dominante. Una copia del alelo SB1 da como resultado caballos con marcas Sabino rotas y posiblemente solo una pequeña cantidad de blanco. Dos copias del alelo SB1 dan como resultado al menos un 90% de blanco, también conocido como Sabino-blanco. El alelo N es recesivo y no tiene efecto en el color básico.

The Coat Colour Sabino 1 test encloses the following results, in this scheme the results of the Coat Colour Sabino 1 test are shown in combination with the possible results for the tests that determine the basic Coat Colour (Coat Colour Chestnut and Coat Colour Agouti test):

Result Sabino 1	Result Chestnut + Agouti	Coat Colour	Descripción
N/N	e/e + A/A, A/a or a/a	Chestnut, Sorrel	Not Sabino 1. The basic colour chestnut/sorrel is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + A/A or A/a	Bay, Brown	Not Sabino 1. The basic colour bay/brown is not modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/N	E/E or E/e + a/a	Black	Not Sabino 1. The basic colour is not black modified unless modified by other colour modifying genes. It can only pass on allele N to its offspring.
N/SB1	e/e + A/A, A/a or a/a	Chestnut/sorrel sabino	Sabino 1 pattern. One copy of the SB1 allele. Horse typically may have 2 or more white legs, blaze, spots or roaning in the midsection and jagged margins around white areas unless modified by other colour modifying genes. It can pass on either allele N or SB1 to its offspring.
N/SB1	E/E or E/e + A/A or A/a	Brown/bay sabino	Sabino 1 pattern. One copy of the SB1 allele. Horse typically may have 2 or more white legs, blaze, spots or roaning in the midsection and jagged margins around white areas unless modified by other colour modifying genes. It can pass on either allele N or SB1 to its offspring.
N/SB1	E/E or E/e + a/a	Black sabino	Sabino 1 pattern. One copy of the SB1 allele. Horse typically may have 2 or more white legs, blaze, spots or roaning in the midsection and jagged margins around white areas unless modified by other colour modifying genes. It can pass on either allele N or SB1 to its offspring.
SB1/SB1	e/e + A/A, A/a or a/a	Chestnut/sorrel sabino	Sabino 1 pattern. Two copies of the SB1 allele. Horse is complete or nearly complete white unless modified by other colour modifying genes. It can only pass on allele SB1 to its offspring.
SB1/SB1	E/E or E/e + A/A or A/a	Brown/bay sabino	Sabino 1 pattern. Two copies of the SB1 allele. Horse is complete or nearly complete white unless modified by other colour modifying genes. It can only pass on allele SB1 to its offspring.
SB1/SB1	E/E or E/e + a/a	Black sabino	Sabino 1 pattern. Two copies of the SB1 allele. Horse is complete or nearly complete white unless modified by other colour modifying genes. It can only pass on allele SB1 to its offspring.

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