OMIA 000202-9627 : Coat colour, albinism in Vulpes vulpes

In other species: domestic cat , cattle , dog , rabbit , sheep , Sumatran tiger , western chorus frog , grass carp , golden hamster , gray short-tailed opossum , raccoon , meadow voles , water buffalo , Arizona pocket mouse , nutria , eastern chipmunk , rufous rat-kangaroo , hippopotamus , hares , northern pocket gopher , North American deer mouse , ass , Japanese medaka , rainbow trout , brown bear , American mink , grivet , goldfish , Campbell's desert hamster , humpback whale , axolotl , African clawed frog , turkey vulture , American black bear , domestic ferret , pig , domestic guinea pig , Tufted capuchin , dark-spotted frog , Japanese wrinkled frog , Rice frog , Bornean orangutan , lion , Mongolian gerbil , hamadryas baboon

Possibly relevant human trait(s) and/or gene(s) (MIM number): 203100

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 all parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as Oculocutaneous albinism (OCA)

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

Variants

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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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Albinism TYR insertion, small (<=20) c.365dupA MK724068: c.365dupA 2019 31246286

Reference


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


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