OMIA 000031-9913 : Coat colour, dilute in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MLPH||melanophilin||Bos taurus||3||NC_037330.1 (116959514..117005443)||MLPH||Homologene, Ensembl, NCBI gene|
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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.
|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|
|Belgian Blue||Coat colour, cool gray||MLPH||deletion, small (<=20)||c.87_96del||p.Glu32Aspfs*1||2016||26582259|
|2016||Li, W., Sartelet, A., Tamma, N., Coppieters, W., Georges, M., Charlier, C. :|
|Reverse genetic screen for loss-of-function mutations uncovers a frameshifting deletion in the melanophilin gene accountable for a distinctive coat color in Belgian Blue cattle. Anim Genet 47:110-3, 2016. Pubmed reference: 26582259. DOI: 10.1111/age.12383.|
- Created by Frank Nicholas on 13 Sep 2018
- Changed by Frank Nicholas on 13 Sep 2018