Lexicon

Progressive rod-cone degeneration (prcd-PRA) is caused by degeneration of the retinal photoreceptor cells and, in the course of the disease, the entire retina is destroyed. Affected animals go blind.

The hereditary disease is one of the three forms of PRA in the Golden Retriever, but also occurs in many other breeds. The inheritance is autosomal recessive.

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Also in the Labrador Retriever A Paket (DRC P1)

Polysaccharide storage myopathy (PSSM1) is a degenerative muscle disease caused by a disorder of sugar metabolism. Affected horses show symptoms such as reluctance to move, muscle tremors and tension.

The disease occurs in many breeds. The inheritance is incomplete autosomal dominant.

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The dog is black all over the body, the hairs are not bicoloured (brown/black) as in the other agouti genes. This colouration is caused by the recessive a allele of the Agouti locus.

See: Agouti (Coat colour A-Locus Dog)

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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