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

Categories: Pigmentation phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 203100 (trait) , 606952 (trait) , 606933 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: 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

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

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."

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

Associated gene: