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

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

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