OMIA:001495-9615 : Coat colour, grizzle in Canis lupus familiaris (dog)

Categories: Pigmentation phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 155555 (gene) , 203200 (trait) , 266300 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2010

Species-specific name: Known as domino in Afghan Hounds

Species-specific symbol: E^G

Inheritance: Dürig et al. (2018) proposed naming the grizzle allele as E^G

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

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.

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
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. (2023). 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