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

In other species: Japanese medaka , dark-spotted frog , Japanese wrinkled frog , Tufted capuchin , Rhesus monkey , hamadryas baboon , dog , 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 , water buffalo , four-striped grass mouse , ocelot gecko , American mink , Japanese raccoon dog , Rice frog

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.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR Vulpes vulpes NW_020356544.1 (7130368..7225233) TYR Homologene, Ensembl , NCBI gene

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.

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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2019). OMIA:000202-9627: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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