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[7] [13] [14] Without genetic testing, some carriers are misidentified as having white markings due to another gene, while some are even classified as solids. [3] The presence of this gene in a variety of horse populations in North America suggests that the mutation occurred in early American history, perhaps in a Spanish-type horse. [5] [6] [7]
In 1994, researchers at the University of Pittsburgh, with a grant from horse organizations, [1] isolated the genetic mutation responsible for the problem and developed a blood test for it. Using this test, horses may be identified as: H/H, meaning they have the mutation and it is homozygous. These horses always pass on the disease.
[16] [17] In horses, both known mutations break the protein and therefore result in red coats. Various mutations in the human MC1R gene result in red hair, blond hair, fair skin, and susceptibility to sunburnt skin and melanoma. [8] Polymorphisms of MC1R also lead to light or red coats in mice, [18] cattle, [19] and dogs, [20] among others.
This Thoroughbred stallion (W2/+) has one form of dominant white.His skin, hooves, and coat lack pigment cells, giving him a pink-skinned white coat. Dominant white (W) [1] [2] is a group of genetically related coat color alleles on the KIT gene of the horse, best known for producing an all-white coat, but also able to produce various forms of white spotting, as well as bold white markings.
Champagne is a dominant trait, based on a mutation in the SLC36A1 gene. [1] A horse with either one or two champagne genes will show the effects of the gene equally. However, if a horse is homozygous for a dominant gene, it will always pass the gene on to all of its offspring, while if the horse is heterozygous for the gene, the offspring will not always inherit the color.
A full accounting of this work, detailing the mapping and identification of a mutation in the gene coding for peptidylprolyl isomerase B, was published on May 11, 2007. [11] Concurrent with publication of these results, the Veterinary Genetics Laboratory at UC Davis began offering a genetic test to identify carriers of the disease allele.
The gene in the equine wildtype is recessive (sb1) and the SB1 mutation is dominant, though an sb1/sb1 horse may have white markings due to other factors. Modest Sabino 1 markings can be difficult to tell apart from other white markings ; the phenotypes overlap.
Equine polysaccharide storage myopathy (EPSM, PSSM, EPSSM) is a hereditary glycogen storage disease of horses that causes exertional rhabdomyolysis.It is currently known to affect the following breeds American Quarter Horses, American Paint Horses, Warmbloods, Cobs, Dales Ponies, Thoroughbreds, Arabians, New Forest ponies, and a large number of Heavy horse breeds.