OMIA 001199-10141 : Coat colour, extension in Cavia porcellus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MC1R||Cavia porcellus||-||no genomic information (-..-)||MC1R||Ensembl|
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|
|Brown coat colour||MC1R||e (MC1R*4)||deletion, gross (>20)||Vidal (2018): "a deletion of 2760 bp, including the entire MC1R coding region"||2018||30101449|
|Brown coat colour||MC1R||e (MC1R*2)||missense||c.749T>C||p.Leu250Gln||2018||30101449|
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||Vidal, O. :|
|Deleterious mutations of MC1R in guinea pig. Anim Genet :, 2018. Pubmed reference: 30101449. DOI: 10.1111/age.12708.|
|1996||Cone, RD., Lu, D., Koppula, S., Vage, DI., Klungland, H., Boston, B., Chen, W., Orth, DN., Pouton, C., Kesterson, RA. :|
|The melanocortin receptors: agonists, antagonists, and the hormonal control of pigmentation. Recent Prog Horm Res 51:287-317; discussion 318, 1996. Pubmed reference: 8701084.|
|1919||Ibsen, H.L. :|
|Tricolor Inheritance. IV. the Triple Allelo-Morphic Series in Guinea-Pigs. Genetics 4:597-606, 1919. Pubmed reference: 17245939.|
|1916||Ibsen, H.L. :|
|Tricolor Inheritance. I. the Tricolor Series in Guinea-Pigs. Genetics 1:287-309, 1916. Pubmed reference: 17245859.|
- Created by Frank Nicholas on 18 Jul 2010
- Changed by Frank Nicholas on 12 Oct 2011
- Changed by Frank Nicholas on 17 Aug 2018
- Changed by Frank Nicholas on 20 Aug 2018