OMIA 001274-452646 : Coat colour, black crystal in Neovison vison

Possibly relevant human trait(s) and/or gene(s) (MIM number): 601924 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal incomplete dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2022

Species-specific symbol: Cr

Species-specific description: First reported by Trapezov (1997), this mutant is characterised by white guard hairs which produce a veil-like covering of the body. Homozygotes have a Himalayan coat colour.

Molecular basis: Manakhov et al. (2022): "we performed whole-genome sequencing of American mink with Cr/Cr phenotype. We identified a missense mutation in the gene encoding the α-COP subunit of the COPI complex (COPA). The COPI complex mediates retrograde trafficking from the Golgi system to the endoplasmic reticulum and sorting of transmembrane proteins. We observed an interaction between a newly identified mutation in the COPA gene and a mutation in the microphthalmia-associated transcription factor (MITF), the latter mutation led to the formation of the white Hedlund (h/h) phenotype. Double heterozygotes for these mutations have an entirely white coat and a black-eyed phenotype similar to the phenotype of Cr/Cr or h/h minks."

Associated gene:

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

Variants

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
1506 Coat colour, black crystal COPA missense Naturally occurring variant NNQGG.v01 FNWR01000261.1 g.4876673G>A c.478C>T p.(R160C) 2022 35729186

References


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., Uralsky, L.I., Andreeva, T.V., Trapezov, O.V., Rogaev, E.I. :
Identification of mutant gene for Black crystal coat and non-allelic gene interactions in Neogale vison. Sci Rep 12:10483, 2022. Pubmed reference: 35729186. DOI: 10.1038/s41598-022-14079-z.
1999 Kharlamova, A.V., Trapezov, O.V. :
[Pleiotropic effect of the Black crystal mutation on reproductive indicators in the American mink (Mustela vison)]. Genetika 35:765-70, 1999. Pubmed reference: 10505266.
1997 Trapezov, O.V. :
Black crystal - a novel color mutant in the American mink (Mustela vison Schreber) Journal of Heredity 88:164-166, 1997. Pubmed reference: 9099008.

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
  • Changed by Imke Tammen2 on 23 Nov 2022