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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| 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 |
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