OMIA:001680-452646 : Coat colour, dominant white with bilateral deafness in Neovison vison
In other species: cattle
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 103500 (trait) , 156845 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2019
Markers: Markakis et al. (2017) reported that "Similar to other described species, in the American mink too, the MITF gene seems to be associated with lack of pigment and deafness, although no significant mutation has been identified in the gene".
Molecular basis: Manakhov et al. (2019) "identified single nucleotide variation (GL896899.1:18635719 G/A (MITF-M C.33 + 1 G > A), hereinafter referred to as MITF^h) at the splice donor site of the 1 M exon in melanocyte-specific MITF isoform (MITF-M) . . . [that] potentially leads to a stop codon after position 51 of the first MITF-M intron, resulting in a truncated 29 amino acid product, that contains only the first 11 amino acid of MITF-M. The mutation was homozygous in all tested Hedlund white minks from the two unrelated test populations, but not in minks with other coat colour phenotypes".
Clinical features: Markakis et al. (2017): "The skin of the newborn Hedlund kits is pale pink, but soon after birth is covered completely with white hair. The Hedlund phenotype in American mink appears to be controlled by a simple incompletely recessive locus and is associated with deafness in homozygotic status, similar to MITF variants in other species."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MITF||Neovison vison||-||no genomic information (-..-)||MITF||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|
|1205||Hedlund||MITF||h||splicing||Naturally occurring variant||MusPutFur1.0.86||c.33+1G>A||GL896899.1:18635719 G/A (MITF-M C.33 + 1 G > A (Manakhov et al., 2017)||2019||30872653|
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.|
|2019||Manakhov, A.D., Andreeva, T.V., Trapezov, O.V., Kolchanov, N.A., Rogaev, E.I. :|
|Genome analysis identifies the mutant genes for common industrial Silverblue and Hedlund white coat colours in American mink. Sci Rep 9:4581, 2019. Pubmed reference: 30872653 . DOI: 10.1038/s41598-019-40918-7.|
|2014||Markakis, M.N., Soedring, V.E., Dantzer, V., Christensen, K., Anistoroaei, R. :|
|Association of MITF gene with hearing and pigmentation phenotype in Hedlund white American mink (Neovison vison). J Genet 93:477-81, 2014. Pubmed reference: 25189243 . DOI: 10.1007/s12041-014-0370-3.|
|1979||Flottorp, G., Foss, I. :|
|Development of hearing in hereditarily deaf white mink (Hedlund) and normal mink (standard) and the subsequent deterioration of the auditory response in Hedlund mink. Acta Otolaryngol 87:16-27, 1979. Pubmed reference: 760374 .|
|1970||Sugiura, A. :|
|[Light and electron microscopic studies of the stria vascularis in Hedlund white mink with deafness]. Nihon Jibiinkoka Gakkai Kaiho 73:Suppl:1080-1, 1970. Pubmed reference: 5466795 .|
- Created by Frank Nicholas on 02 Jun 2020
- Changed by Frank Nicholas on 02 Jun 2020
- Changed by Imke Tammen2 on 15 Nov 2022