In other species: Japanese medaka , axolotl , marine toad , dark-spotted frog , Japanese wrinkled frog , Tufted capuchin , Rhesus monkey , hamadryas baboon , red fox , domestic ferret , domestic cat , lion , humpback whale , ass (donkey) , pig , red deer , American bison , taurine cattle , rabbit , golden hamster , Mongolian gerbil , domestic guinea pig , Japanese ratsnake , thirteen-lined ground squirrel , ball python , water buffalo , four-striped grass mouse , ocelot gecko , American mink , Rice frog , red-necked wallaby , Japanese raccoon dog

Categories: Pigmentation phene , Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 203100 (trait) , 606952 (trait) , 606933 (gene)

Single-gene trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2020

Cross-species summary: Congenital lack of pigment in most parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as oculocutaneous albinism (OCA), acromelanism and as the Himalayan coat-colour pattern.

Species-specific name: Acromelanism; Himalayan coat color/colour

Inheritance: Bychkova et al. (2020): "The proband’s mother, which is black-and-tan, is a heterozygous carrier of the c.230A allele [omia.variant:1247]".

Molecular basis: Bychkova et al. (2020): "Sequencing of the coding part of the TYR gene from the proband ["a dachshund with a unique coat color resembling the Himalayan type"] revealed a homozygous variant (c.230G > A) in exon 1, leading to an amino acid substitution (p.R77Q) in a conserved region of the protein [omia.variant:1247]."
Van Buren et al. (2025) "investigated a family of rescue dogs that display a characteristic Himalayan coat color ... [and] identified a novel TYR variant (c.229C>T, p.Arg77Trp) in exon 1 in the homozygous state in the five Himalayan dogs [omia.variant:1758]."

Prevalence: Bychkova et al. (2020): "none of the 210 dogs of different breeds, unrelated to the proband, carried the c.230A allele"

Breeds: Dachshund (Dog) (VBO_0200406), Mixed Breed (Dog) (VBO_0200902).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene: