OMIA:001590-9615 : Coat colour, melanistic mask in Canis lupus familiaris
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 155555 (gene) , 266300 (trait)
Links to MONDO diseases: No links.
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.
|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_051809.1 (63923224..63922271)||MC1R||Homologene, Ensembl , NCBI gene|
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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.
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|
|34||Leonberger Malinois||Black melanistic mask||MC1R||E^M||missense||Naturally occurring variant||CanFam3.1||5||g.63694460C>T||c.790A>G||p.(M264V)||rs24201590||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.
|2023||Arizmendi, A., Rudd Garces, G., Crespi, J.A., Olivera, L.H., Barrientos, L.S., Peral García, P., Giovambattista, G. :|
|Analysis of Doberman Pinscher and Toy Poodle samples with targeted next-generation sequencing. Gene 853:147069, 2023. Pubmed reference: 36427679 . DOI: 10.1016/j.gene.2022.147069.|
|2022||[No authors listed] :|
|Canine coat pigmentation genetics: a review. Anim Genet 53:474-475, 2022. Pubmed reference: 35510419 . DOI: 10.1111/age.13185.|
|Brancalion, L., Haase, B., Wade, C.M. :|
|Canine coat pigmentation genetics: a review. Anim Genet 53:33-34, 2022. Pubmed reference: 34751460 . DOI: 10.1111/age.13154.|
|Ji, R.L., Tao, Y.X. :|
|Melanocortin-1 receptor mutations and pigmentation: Insights from large animals. Prog Mol Biol Transl Sci 189:179-213, 2022. Pubmed reference: 35595349 . DOI: 10.1016/bs.pmbts.2022.03.001.|
|2021||Nord, M.E., Jensen, P. :|
|Genomic regions associated with variation in pigmentation loss in saddle tan Beagles. Genes (Basel) 12:316, 2021. Pubmed reference: 33672409 . DOI: 10.3390/genes12020316.|
|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
- Changed by Imke Tammen2 on 18 Jan 2023