OMIA:000202-9627 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Vulpes vulpes

In other species: domestic cat , cattle , dog , rabbit , water buffalo , ass , 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 , hamadryas baboon , red deer , Japanese raccoon dog , Japanese ratsnake ,

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

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

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

Molecular basis: Yan et al. (2019) reported the likely causal variant as "A 1‐bp insertion (c.365dupA) in exon 1, which introduces a premature stop codon (accession no. MK724068)" in the TYR gene.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR Vulpes vulpes - no genomic information (-..-) TYR Ensembl


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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1118 Albinism TYR insertion, small (<=20) Naturally occurring variant VulVul2.2 NW_020356544.1 g.7130732dup c.365dup p.(N122Kfs4*) XM_026015193.1; XP_025870978.1; published as c.365dupA 2019 31246286


2019 Yan, S., Zhao, D., Hu, M., Tan, X., Lai, W., Kang, J., Yu, F., Li, Y., Bai, C. :
A single base insertion in the tyrosinase gene is associated with albino phenotype in silver foxes (Vulpes vulpes). Anim Genet 50:550, 2019. Pubmed reference: 31246286 . DOI: 10.1111/age.12816.

Edit History

  • Changed by Frank Nicholas on 21 Sep 2019
  • Created by Frank Nicholas on 21 Sep 2019