OMIA:000449-452646 : Heggedal factor (coat colour) in Neovison vison
Categories: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2022
Species-specific name: Shadow coat colour
Inheritance: The Sh allele seems to be autosomal dominant and Sh/Sh is lethal (Nes, 1963, 1964).
Molecular basis: Manakhov et al. (2022) "performed whole-genome sequencing of the American mink with a Shadow Silverblue (Sh /+ p/p) phenotype. We identified a missense mutation (c.2374 G>T) in the gene encoding the KIT proto-oncogene, receptor tyrosine kinase gene (KIT) ... . The reported mutation results in amino acid substitution p.Asp792Tyr in a highly conserved catalytic loop of the KIT protein."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KIT||Neovison vison||-||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|
|1505||Shadow coat colour||KIT||S^h||missense||Naturally occurring variant||NNQGG.v01||NWR01000037.1||g.6253028G>T||c.2374G>T||p.(D792Y)||2022||35481560|
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.
|2022||Manakhov, A.D., Mintseva, M.Y., Andreeva, T.V., Trapezov, O.V., Rogaev, E.I. :|
|Shadow coat colour in American mink associated with a missense mutation in the KIT gene. Anim Genet 53:522-525, 2022. Pubmed reference: 35481560 . DOI: 10.1111/age.13202.|
|1965||Nes, N. :|
|Abnormalities of the female genital organs in mink heterozygous for the Heggedal factor (shadow factor). Acta Vet Scand 22:65-99, 1965. Pubmed reference: 14284207 . DOI: https://doi.org/10.1080/00015126409434167.|
|1964||Nes, N :|
|The homozygous lethal effect of the Heggedal factor (Shadow Factor) Acta Agriculturae Scandinavica 14:208-228, 1964. DOI: DOI: 10.1080/00015126409434167.|
|1963||Nes, N. :|
|An investigation of the relation of the Heggedal factor to the Black Cross factor. Acta Agriculturae Scandinavica 13:359-370, 1963. DOI: https://doi.org/10.1080/00015126309435662.|
|Nes, N. :|
|Investigation of the inheritance of the Heggedal mutation in mink. Acta Agriculturae Scandinavica 13:271-292, 1963. DOI: https://doi.org/10.1080/00015126309434157.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 09 Nov 2013
- Changed by Imke Tammen2 on 15 Nov 2022