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OMIA 000201-9627 : Coat colour, agouti in Vulpes vulpes

In other species: horse , cattle , meadow voles , pig , sheep , domestic cat , rabbit , dog , gray wolf , coyote , goat , Eurasian water mole , Northern mole vole , North American deer mouse , alpaca , leopard , Asiatic golden cat , leopard cat , ass , impala , Colocolo , Kodkod , Geoffroy's cat , Arabian camel , Mongolian gerbil , domestic guinea pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 611742

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: no

Key variant known: yes

Year key variant first reported: 1997

Cross-species summary: This locus, ASIP, encodes the agouti signalling protein, a peptide antagonist of the melanocyte-stimulating hormone receptor (MC1R), which is the product of the extension locus.

Species-specific description: Vage et al. (1997) cloned and characterized the fox agouti gene, and showed that a deletion in the first coding exon is responsible for the recessive agouti allele documented in the darkly pigmented Standard Silver fox. This dark pigmentation is presumably due to the lack of agouti product, i.e. the lack of an antagonist to the melanocyte-stimulating hormone receptor (which is the product of the extension locus).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ASIP Vulpes vulpes - no genomic information (-..-) ASIP 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
Coat colour, agouti ASIP deletion, gross (>20) "A deletion in the first coding exon of the agouti gene" 1997 9054949
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Reference


1997 Vage, D.I., Lu, D.S., Klungland, H., Lien, S., Adalsteinsson, S., Cone, R.D. :
A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes Nature Genetics 15:311-315, 1997. Pubmed reference: 9054949. DOI: 10.1038/ng0397-311.

Edit History


  • Created by Frank Nicholas on 29 Nov 2005
  • Changed by Frank Nicholas on 12 Oct 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 21 Mar 2012