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."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KIT Neovison vison - no genomic information (-..-) KIT Ensembl


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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:
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:
Nes, N. :
Investigation of the inheritance of the Heggedal mutation in mink. Acta Agriculturae Scandinavica 13:271-292, 1963. DOI:

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 09 Nov 2013
  • Changed by Imke Tammen2 on 15 Nov 2022