OMIA 001497-452646 : Coat colour, Himalayan in Neovison vison

Possibly relevant human trait(s) and/or gene(s) (MIM number): 606933

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2009

Species-specific name: Marbled

Species-specific description: This trait is similar to that of the Siamese and Burmese cats: "light-colored body with dark-colored points (ears, face, tail, and feet)" (Benkel et al., 2009).

Mapping: In mapping the TYR gene to chromosome NVI7q1.1-q1.3 in the context of the albino phenotype, Anistoroaei et al. (Anim Genet 39:645-8, 2008) also mapped the Himilayan trait.

Molecular basis: By sequencing a very strong comparative and functional candidate gene, Benkel et al (2008) showed that "marbled mink carry a mutation in exon 4 of the TYR gene (c.1835C > G) which results in an amino acid substitution (p.H420Q). The location of this substitution corresponds to the amino acid position that is also mutated in the TYR protein of the Himalayan mouse. Thus, the marbled variant is more aptly referred to as the Himalayan mink."

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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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, Himalayan TYR missense c.1835C>G p.H420Q 2009 19308642

Reference


2009 Benkel, BF., Rouvinen-Watt, K., Farid, H., Anistoroaei, R. :
Molecular characterization of the Himalayan mink. Mamm Genome 20:256-9, 2009. Pubmed reference: 19308642. DOI: 10.1007/s00335-009-9177-6.

Edit History


  • Created by Frank Nicholas on 29 Jul 2010
  • Changed by Frank Nicholas on 12 Oct 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 21 Mar 2012
  • Changed by Frank Nicholas on 08 Nov 2013