OMIA:001495-9615 : Coat colour, grizzle in Canis lupus familiaris (dog) |
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 155555 (gene) , 203200 (trait) , 266300 (trait)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Disease-related: no
Key variant known: yes
Year key variant first reported: 2010
Species-specific name: Known as domino in Afghan Hounds
Species-specific symbol: EG
Species-specific description: See also: OMIA:001199-9615 : Coat colour, extension in Canis lupus familiaris
Inheritance: Dürig et al. (2018) proposed naming the grizzle allele as E^G
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
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 32 | Afghan Hound (Dog) Saluki (Dog) | Grizzle | MC1R | E^G | missense | Naturally occurring variant | CanFam3.1 | 5 | g.63695017C>A | c.233G>T | p.(G78V) | NM_001014282.2; NP_001014304.2 | 2010 | 20525767 | Genomic coordinates in CanFam3.1 provided by Robert Kuhn |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001495-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2023 | Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. : |
| Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787. DOI: 10.1186/s13059-023-03023-7. | |
| 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. | |
| 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. | |
| 2010 | Dreger, D.L., Schmutz, S.M. : |
| A new mutation in MC1R explains a coat color phenotype in 2 "old" breeds: Saluki and Afghan hound. J Hered 101:644-9, 2010. Pubmed reference: 20525767. DOI: 10.1093/jhered/esq061. |
Edit History
- Created by Frank Nicholas on 21 Jul 2010
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 01 Aug 2018
- Changed by Imke Tammen2 on 18 Jan 2023
- Changed by Imke Tammen2 on 08 Apr 2024