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OMIA 000031-9913 : Coat colour, dilute in Bos taurus

In other species: dog , horse , domestic cat , rabbit , American mink

Possibly relevant human trait(s) and/or gene(s) (MIM number): 609227

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2015

Cross-species summary: Also known as Coat colour, dilution

Species-specific name: Cool gray

Species-specific description: In a reversal of the normal sequence of discovery, Li et al. (2016) discovered this phenotype AFTER identifying the causal mutation, by noticing that all Belgian Blue cattle with a particular mutation (MLPH: c.87_96del; p.Glu32Aspfs*1), which inactivates MLPH, have an expected dilution phenotype which the authors called "cool gray".

Molecular basis: As reported by Li et al. (2016) [published online in 2015], "In the course of a reverse genetic screen in the Belgian Blue cattle breed, we uncovered a 10-bp deletion (c.87_96del) in the first coding exon of the melanophilin gene (MLPH), which introduces a premature stop codon (p.Glu32Aspfs*1) in the same exon, truncating 94% of the protein." Belgian Blue cattle homozygous for this mutant (and with the appropriate genotype at the epistatic KIT locus) all exhibited a dilution coat colour phenotype (as expected with a mutation that inactivates MLPH), which the authors called "cool gray".

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

Variants

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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
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Reference


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.

Edit History


  • Created by Frank Nicholas on 13 Sep 2018
  • Changed by Frank Nicholas on 13 Sep 2018