OMIA 001680-452646 : Dominant white with bilateral deafness in Neovison vison

In other species: cattle

Possibly relevant human trait(s) and/or gene(s) (MIM number): 103500

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."

Associated gene:

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

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Hedlund MITF h splicing 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

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.
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.

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  • Created by Frank Nicholas on 02 Jun 2020
  • Changed by Frank Nicholas on 02 Jun 2020