OMIA 001680-452646 : Dominant white with bilateral deafness in Neovison vison
|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.
|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|
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.|
- Created by Frank Nicholas on 02 Jun 2020
- Changed by Frank Nicholas on 02 Jun 2020