OMIA 000031-9913 : Coat colour, dilution, MLPH-related in Bos taurus
Having shown that the Larson Blue "phenotype is not due to inheritance of known mutations causing coat color variation in cattle, including dominant red, Telstar, silver color dilutor, or Dun color", Dikmen et al. (2017) whole-genome sequenced two Larson Blue cows and identified "Three variants with moderate effects on the melanophilin (MLPH) gene were identified in 2 Larson blue cows" but noted that "tools for prediction of the simultaneous effect of 3 missense mutations on the MLPH protein are not available, so additional research is needed to confirm the effect of these AA changes on MLPH function. It is also not known whether the variants identified in MLPH exist in wild-type cows in the Larson herd."Prevalence: Li et al. (2016) reported a 5% frequency of the p.Glu32Aspfs*1 allele in Belgian Blue cattle. Breed: Belgian Blue. Associated gene:
|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.
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|
|553||Belgian Blue||Coat colour, cool gray||MLPH||deletion, small (<=20)||Naturally occurring variant||ARS-UCD1.2||3||g.116966611_116966620del||c.87_96del||p.(E32Dfs*1)||2016||26582259||The genomic location on ARS-UCD1.2 was determined by Katie Eager & Shernae Woolley, EMAI, NSW Department of Primary Industries.|
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.
|2017||Dikmen, S., Dahl, G.E., Cole, J.B., Null, D.J., Hansen, P.J. :|
|The Larson Blue coat color phenotype in Holsteins: Characteristics and effects on body temperature regulation and production in lactating cows in a hot climate. J Anim Sci 95:1164-1169, 2017. Pubmed reference: 28380539. DOI: 10.2527/jas.2016.1148.|
|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
- Changed by Frank Nicholas on 02 Mar 2020