OMIA 001590-9615 : Coat colour, melanistic mask in Canis lupus familiaris |
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Dominant
Considered a defect:
no
Key variant known:
yes
Year key variant first reported:
2003
History:
Dürig et al. (2018) proposed naming the mask allele E^M
Molecular basis:
By cloning and sequencing a very likely candidate gene (based on knowledge that the mask phenotype is due to an allele at the Extension locus, which is known to be encoded by the MC1R gene), Schmutz et al. (2003) reported that "All dogs with a melanistic mask had at least one copy of a valine substitution for methionine at amino acid 264 (M264V)", resulting from "an A to G transition in the first position of codon 264" in the canine MC1R gene.
Associated gene:
| 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 |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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| 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. |
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.
| 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. |
Edit History
- 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