Lexicon

Horses with the Sabino-1 pattern often have white patches of different sizes with 'indistinct/fringed' borders especially on the head, belly and legs. Many horses have often white ticked hair on the rest of the body (animals with one copy of the gene: Sb1/n). Horses with two copies of the mutation (homozygous) are usually completely white.

Sabino-1 is a special form of White Spotting/Dominant White and is the most common, but not the only mutation causing this spotting pattern. Should a horse show a Sabino-like pattern but does not have an Sb1 mutation, other mutations in the KIT gene, the so-called W-variants, could be responsible.

Severe Combined Immunodeficiency Disease (SCID) causes an inactive immune system, leading to fatal infections and early death.

The disease occurs in Arabians and related breeds. The inheritance is autosomal recessive.

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The Silver mutation leads to the lightening of the mane and tail while the body coat remains relatively dark due to the reduced storage of the dark colour pigment "eumelanin" in the (long) hair.

Therefore, only horses with the base colour black or bay show the lightening, while horses with the base colour chestnut (only light colour pigment phaeomelanin) may be carriers of the silver mutation.

The mutation is associated with eye problems called Multiple Congenital Ocular Abnormalities (MCOA).

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Also in the Dilution package

In skeletal atavism (SA), deformation of the legs occurs due to the formation of an additional bone, which was still present in the ancestors. However, the body of the modern horse is no longer designed to accommodate both bones, and health problems and severe pain result.

The disease occurs in Miniature Horses and Shetland Ponies. It is inherited autosomal recessively.

Skeletal dysplasia 2 (SD 2) in Labrador Retrievers is a form of dwarfism in which the body size is normal but the legs are on average 6 cm shorter.

The inheritance is autosomal recessive.

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Horses with the splashed white gene have an irregular white pattern that is highly variable in expression.

Horses with one copy usually have a large white blaze and other irregular markings. Blue eyes, white coloured legs and occasional small patches on the belly region are also possible. These markings often cannot be clearly distinguished from other white markings by appearance.

Horses with two copies are mostly medicine hats (→ upper head region and back coloured, while face, belly and legs are white) or otherwise show a high amount of white.

There are four splashed white mutations, the most common being SW1.

Genetic Test SW1: available in Shop

The Piebald colouration is a white spotting pattern in which white patches appear on the body. The extent and position of the spotting can vary greatly. Probable differences in expression between breeds have been noted.

The colour is caused by the s allele of the S locus, through a mutation of the MITF gene. Other alleles of the MITF gene or other genes could influence this phenotype, the individual variations are still unknown and research on this is still ongoing.

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SPPD - 'Split Paw Pad Disease' refers to a hereditary disease of the paw pads that occurs in dogs and results in lesions of varying severity and cause. A mutation has been isolated in a specific lineage of the German Shepherd breed that causes the symptoms in the affected animals. 
The genetic test can be used to identify unclear cases and asymptomatic carriers.

Squamous cell carcinoma (SCC) is a malignant tissue formation (tumor) originating from the superficial layers of the skin and mucous membranes. It is the most common type of eye cancer in horses. This test identifies a gene mutation that increases the risk of developing SCC.

This mutation for SCC has been found in Haflingers and Percherons. The inheritance is autosomal recessive.

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Stargardt disease (STGD) is an eye disease in which affected dogs show impaired vision. Due to a mutation in the gene for a membrane transporter protein in the photoreceptor cells (cones and rods), lipofuscin ("age pigment") is deposited in the retinal pigment epithelium (RPE) of the retina and the photoreceptor cells slowly degenerate.

The disease occurs in the Labrador Retriever and the inheritance is autosomal recessive.

Synonym: STGD-PRA, Morbus Stargardt

Genetic Test: available in Shop