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Loss‐of‐function variants in the MC1R gene cause recessive red or yellow coat‐colour phenotypes in many species. The canine MC1R:c.916C>T (p.Arg306Ter) variant is widespread and found in a homozygous state in many uniformly yellow‐ or red‐coloured dogs. We investigated cream‐coloured Australian Cattle Dogs whose coat colour could not be explained by this variant. A genome‐wide association study...
Coat colour dilution may be the result of altered melanosome transport in melanocytes. Loss‐of‐function variants in the melanophilin gene (MLPH) cause a recessively inherited form of coat colour dilution in many mammalian and avian species including the dog. MLPH corresponds to the D locus in many domestic animals, and recessive alleles at this locus are frequently denoted with d. In this study, we...
Oculocutaneous albinism type 4 (OCA4) in humans and similar phenotypes in many animal species are caused by variants in the SLC45A2 gene, encoding a putative sugar transporter. In dog, two independent SLC45A2 variants are known that cause oculocutaneous albinism in Doberman Pinschers and several small dog breeds respectively. For the present study, we investigated a Bullmastiff with oculocutaneous...
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