OMIA 000202-9669 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Mustela putorius furo

In other species: domestic cat , cattle , dog , rabbit , water buffalo , ass , Japanese medaka , American mink , humpback whale , 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

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

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2007

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

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR tyrosinase Mustela putorius furo - no genomic information (-..-) 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.

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
Coat colour, albinism TYR deletion, gross (>20) "deletion of exon 4" 2007 17655555

Reference


2007 Blaszczyk, W.M., Distler, C., Dekomien, G., Arning, L., Hoffmann, K.P., Epplen, J.T. :
Identification of a tyrosinase (TYR) exon 4 deletion in albino ferrets (Mustela putorius furo). Anim Genet 38:421-3, 2007. Pubmed reference: 17655555. DOI: 10.1111/j.1365-2052.2007.01619.x.

Edit History


  • Created by Frank Nicholas on 23 Feb 2012
  • Changed by Frank Nicholas on 21 Mar 2012