OMIA 001590-9615 : Coat colour, melanistic mask in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MC1R||melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)||Canis lupus familiaris||5||NC_006587.3 (63695249..63694296)||MC1R||Homologene, Ensembl, NCBI gene|
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|
|Leonberger Malinois||Black melanistic mask||MC1R||E^M||missense||CanFam3.1||5||g.63694460C>T||c.790A>G||p.M264V||rs24201590||2003||12692165||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. Correction to genomic details provided by Professor Claire Wade.|
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.
|2018||Dürig, N., Letko, A., Lepori, V., Hadji Rasouliha, S., Loechel, R., Kehl, A., Hytönen, M.K., Lohi, H., Mauri, N., Dietrich, J., Wiedmer, M., Drögemüller, M., Jagannathan, V., Schmutz, S.M., Leeb, T. :|
|Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies. Anim Genet 49:284-290, 2018. Pubmed reference: 29932470. DOI: 10.1111/age.12660.|
|2011||Conant, E.K., Juras, R., Cothran, E.G. :|
|Incidence of the mask phenotype M264V mutation in Labrador Retrievers. Res Vet Sci 91:e98-9, 2011. Pubmed reference: 21353269. DOI: 10.1016/j.rvsc.2011.02.002.|
|2003||Schmutz, SM., Berryere, TG., Ellinwood, NM., Kerns, JA., Barsh, GS. :|
|MC1R studies in dogs with melanistic mask or brindle patterns. J Hered 94:69-73, 2003. Pubmed reference: 12692165.|
- Created by Frank Nicholas on 21 Jul 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 21 Sep 2012
- Changed by Frank Nicholas on 01 Aug 2018