OMIA 000031-452646 : Coat colour, dilution, MLPH-related in Neovison vison |
Manakhov et al. (2019) reported that the likely causal variant for the silverblue phenotype in mink "from two unrelated populations (Novosibirsk and Tver mink populations)" is "a single nucleotide variation (GL896909.1:662639 G/A (MLPH C.901 + 1 G > A), hereinafter referred to as MLPH^p) at the splice donor site of melanophilin (MLPH) that potentially resulted in loss of function".
Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
MLPH | Neovison vison | - | no genomic information (-..-) | MLPH | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
672 | Coat colour, silver-blue | MLPH | deletion, gross (>20) | Naturally occurring variant | deletion of exon 8 | 2013 | 23747352 | ||||||||||
1204 | Silverblue | MLPH | p | splicing | Naturally occurring variant | MusPutFur1.0.86 | g.662639G>A | c.901+1G>A | GL896909.1:662639 G/A (MLPH C.901 + 1 G > A) (Manakhov et al., 2019) | 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. | ||
2017 | Liu, Z.Y., Liu, L.L., Song, X.C., Cong, B., Yang, F.H. : | |
Heritability and genetic trends for growth and fur quality traits in silver blue mink Ital. J. Anim. Sci. 16:39-43, 2017. | ||
2013 | Cirera, S., Markakis, M.N., Christensen, K., Anistoroaei, R. : | |
New insights into the melanophilin (MLPH) gene controlling coat color phenotypes in American mink. Gene 527:48-54, 2013. Pubmed reference: 23747352. DOI: 10.1016/j.gene.2013.05.047. | ||
2009 | Trapezov, O.V., Trapezova, L.I., alekhina, T.A., Klochkov, D.V., Ivanov, I.u.N. : | |
[Effects of monorecessive and double recessive mutations affecting coat color on the monoamine content of the brain of the American mink (Mustela vison Schreber, 1777)]. Genetika 45:1641-5, 2009. Pubmed reference: 20198975. | ||
Трапезов, О.В., Трапезова, Л.И. : | ||
Воспроизводящаяся коллекция окрасочных генотипов американской норки (Mustela vison Schreber, 1777) на экспериментальной звероферме Института цитологии и генетики СО РАН (А reproducing collection of American mink (Mustela vison Schreber, 1777) color genotypes at the experimental fur farm of the Institute of cytology and genetics, Novosibirsk) Вестник ВОГиС 13:554-570, 2009. | ||
2007 | Anistoroaei, R., Christensen, K. : | |
Mapping of the silver gene in mink and its association with the dilution gene in dog. Cytogenet Genome Res 116:316-8, 2007. Pubmed reference: 17431331. DOI: 10.1159/000100417. | ||
1996 | Popova, N.K., Nikulina, E.M., Voitenko, N.N., Avgustinovich, D.F., Trapezov, O.V. : | |
The one-locus silver-blue fur color mutation (pp) in minks affects the dopamine system of the brain [Russian] Genetika 32:452-454, 1996. Pubmed reference: 8723640. |
Edit History
- Created by Frank Nicholas on 15 Sep 2018
- Changed by Frank Nicholas on 15 Sep 2018
- Changed by Frank Nicholas on 02 Jun 2020