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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_051809.1 (63923224..63922271) MC1R Homologene, Ensembl, NCBI gene

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.

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.
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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