Lexicon

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.

Genetic Test: available in Shop

rcd4-PRA in dogs (rod–cone dysplasia 4) is an eye disease in which a mutation in the PCARE gene causes degeneration of the photoreceptors in the retina. It is a form of progressive retinal atrophy (PRA) with late onset. PRA is a mostly hereditary disease of the retina in which progressive loss of photoreceptor cells leads to partial to complete loss of vision. In the late-onset forms, the first symptoms usually appear in middle age. rcd4 PRA leads to complete blindness as the disease progresses.

Gordon Setters and Irish Setters are particularly affected. Reports of individual cases in a wide variety of breeds suggest that the mutation originated before the current dog breeds were developed. The hereditary disease is inherited in an autosomal recessive manner.

Order DNA test

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)

Runs of Homozygosity (ROH) are contiguous stretches of homozygous genotypes that can be found in an individual's genome. They arise from the inheritance of identical segments of DNA from both parents, often due to mating between relatives. Analyzing ROH can provide valuable insights into genetic diversity, inbreeding levels, and overall health of populations.

ROH profiles, along with the genomic inbreeding coefficient (GIC) and heterozygosity values (HE) , are modules of genome-based evaluation for inbreeding & fitness and for mating planning based on this, taking genetic diversity/inbreeding into account.

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.

Genetic Test: available in Shop

The Shagya Arabian is a noble and powerful horse breed that was originally bred in the Austro-Hungarian Empire in the 19th century. The breed is named after the Arabian stallion “Shagya”, who contributed significantly to the founding line.

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).

Genetic Test: available in Shop

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.

Genetic Test: available in Shop