OMIA:001652-9627 : Coat colour, platinum in Vulpes vulpes
In other species: North American deer mouse
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 164920 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal incomplete dominant
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2015
Inheritance: Johnson et al. (2015): "The platinum phenotype is inherited as an incompletely dominant trait; platinum foxes are heterozygous, as homozygosity for the platinum allele is embryonic lethal (Mohr & Tuff 1939; Cole & Shackelford 1943; Belyaevet al.1975)."
Molecular basis: "A single nucleotide polymorphism (SNP) was identified at the first nucleotide of KIT intron 17 in the platinum fox. In platinum foxes, the A allele of the SNP disrupts the donor splice site and causes exon 17, which is part of a segment that encodes a conserved tyrosine kinase domain, to be skipped" (Johnson et al., 2015)
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KIT||Vulpes vulpes||-||no genomic information (-..-)||KIT||Ensembl|
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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|
|1525||Platinum coat colour||KIT||splicing||Naturally occurring variant||G>A variant in the first nucleotide of KIT intron 17 causes skipping of exon 17||2015||25662789|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2016||Kukekova, A.V., Johnson, J.L., Kharlamova, A.V., Vladimirova, A.V., Shepeleva, D.V., Gulevich, R.G., Trut, L.N. :|
|Georgian white coat color of red fox (Vulpes vulpes) maps to fox chromosome 2 in the region containing KIT gene. Anim Genet 47:514-5, 2016. Pubmed reference: 27329365 . DOI: 10.1111/age.12439.|
|2015||Johnson, J.L., Kozysa, A., Kharlamova, A.V., Gulevich, R.G., Perelman, P.L., Fong, H.W., Vladimirova, A.V., Oskina, I.N., Trut, L.N., Kukekova, A.V. :|
|Platinum coat color in red fox (Vulpes vulpes) is caused by a mutation in an autosomal copy of KIT. Anim Genet 46:190-9, 2015. Pubmed reference: 25662789 . DOI: 10.1111/age.12270.|
|1975||Belyaev, D.K., Trut, L.N., Ruvinsky, A.O. :|
|Genetics of the W locus in foxes and expression of its lethal effects. J Hered 66:331-8, 1975. Pubmed reference: 1219056 . DOI: 10.1093/oxfordjournals.jhered.a108643.|
|1947||Johansson, I. :|
|Inheritance of the platinum and white face characters in the fox. Hereditas 33:152–174, 1947.|
|1943||Cole, L.J., Shackelford, R.M. :|
|White spotting in the fox. The American Naturalist 77:289–321, 1943.|
|1939||Mohr, O.L., Tuff, P. :|
|The Norwegian platinum fox: a coat color mutation having great economic value. Journal of Heredity 30:227-234, 1939.|
- Created by Frank Nicholas on 29 Apr 2015
- Changed by Frank Nicholas on 29 Apr 2015
- Changed by Imke Tammen2 on 20 Jan 2023