OMIA 000202-452646 : Coat colour, albinism in Neovison vison

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 , 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 , red fox

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: 2008

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)

Species-specific description: This species is also know as Neovison vison.

Mapping: Anistoroaei et al. (2008) linkage-mapped the albino locus in American mink to two microsatellites known to be located in the region of the mink genome homologous to the TYR gene in other species. They also physically mapped a BAC clone containing one of the two linked microsatellites (Mvi6034) "to chromosome 7q1.1-q1.3 by fluorescent in situ hybridization".

Molecular basis: By sequencing the strong comparative positional (see Mapping section) and functional candidate gene (TYR), Anistoroaei et al. (2008) showed that albinism in American Mink is due to "a nonsense mutation in exon 1, which converts a TGT codon encoding cysteine to a TGA stop codon (c.138T>A, p.C46X; EU627590). The mutation truncates more than 90% of the normal gene product including the putative catalytic domains."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR Neovison vison - 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 nonsense (stop-gain) c.138T>A p.C46* 2008 18822100

Reference


2008 Anistoroaei, R., Fredholm, M., Christensen, K., Leeb, T. :
Albinism in the American mink (Neovison vison) is associated with a tyrosinase nonsense mutation. Anim Genet 39:645-8, 2008. Pubmed reference: 18822100. DOI: 10.1111/j.1365-2052.2008.01788.x.

Edit History


  • Created by Frank Nicholas on 09 Jul 2009
  • Changed by Frank Nicholas on 15 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 21 Mar 2012
  • Changed by Frank Nicholas on 05 Aug 2013
  • Changed by Frank Nicholas on 08 Nov 2013