OMIA 002197-9615 : Coat colour, phaeomelanin dilution, MFSD12-related in Canis lupus familiaris |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
MFSD12 | major facilitator superfamily domain containing 12 | Canis lupus familiaris | 20 | NC_051824.1 (56514447..56522856) | MFSD12 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1081 | Coat colour, white or cream | MFSD12 | missense | Naturally occurring variant | CanFam3.1 | 20 | g.55850145C>T | c.151C>T | p.(R51C) | ROS_Cfam_1.0:g.34222854T>A ENSCAFT00845015439.1:c.121T>A ENSCAFP00845011991.1:p.Cys41Ser | rs22915955 | rs22915955 | 2019 | 31117290 | The cDNA coordinate kindly provided by Tosso Leeb 190523; alternate cDNA and protein coordinates in verbal description based on EVA ID. |
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.
2021 | Brancalion, L., Haase, B., Wade, C.M. : | |
Canine coat pigmentation genetics: a review. Anim Genet :, 2021. Pubmed reference: 34751460. DOI: 10.1111/age.13154. | ||
Slavney, A.J., Kawakami, T., Jensen, M.K., Nelson, T.C., Sams, A.J., Boyko, A.R. : | ||
Five genetic variants explain over 70% of hair coat pheomelanin intensity variation in purebred and mixed breed domestic dogs. PLoS One 16:e0250579, 2021. Pubmed reference: 34043658. DOI: 10.1371/journal.pone.0250579. | ||
2019 | Hédan et al., Hédan, B., Cadieu, E., Botherel, N., Dufaure de Citres, C., Letko, A., Rimbault, M., Drögemüller, C., Jagannathan, V., Derrien, T., Schmutz, S., Leeb, T., André, C. : | |
Identification of a Missense Variant in <i>MFSD12</i> Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs. Genes (Basel) 10:386, 2019. Pubmed reference: 31117290. DOI: 10.3390/genes10050386. | ||
2007 | Schmutz, SM., Berryere, TG. : | |
The genetics of cream coat color in dogs. J Hered 98:544-8, 2007. Pubmed reference: 17485734. DOI: 10.1093/jhered/esm018. | ||
Schmutz, SM., Berryere, TG. : | ||
Genes affecting coat colour and pattern in domestic dogs: a review. Anim Genet 38:539-49, 2007. Pubmed reference: 18052939. DOI: 10.1111/j.1365-2052.2007.01664.x. | ||
2001 | Sponenberg, D.P., Rothschild, M.F. : | |
Genetics of coat colour and hair texture (chapter 4) The Genetics of the Dog (eds A. Runinsky and J. Sampson) CAB International :61-85, 2001. | ||
1984 | Carver, E.A. : | |
Coat colour genetics of the German shepherd dog Journal of Heredity 75:247-252, 1984. DOI: 10.1093/oxfordjournals.jhered.a109926. | ||
1941 | Iljin, N.A. : | |
Wolf-dog genetics Journal of Genetics 42:359-414, 1941. DOI: 10.1007/BF02982879. | ||
1932 | Iljin, N.A. : | |
Genetics and Breeding of the Dog. Seljskohozgiz, Moscow :, 1932. |
Edit History
- Created by Frank Nicholas on 23 May 2019
- Changed by Frank Nicholas on 23 May 2019
- Changed by Frank Nicholas on 24 May 2019
- Changed by Frank Nicholas on 28 May 2019
- Changed by Imke Tammen2 on 01 Jun 2021