OMIA 001545-30521 : Coat colour, dilution, PMEL-related in Bos grunniens

In other species: cattle

Possibly relevant human trait(s) and/or gene(s) (MIM number): 155550

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2014

Cross-species summary: FN acknowledges invaluable feedback from Cord Drögemüller that has led to the name of this phene being changed from "Coat colour, dilution" to "Coat colour, dilution, PMEL-related".

Molecular basis: Brown coat colour is associated with a small deletion: c.50_52del; p.Leu18del (Zhang et al., 2014)

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PMEL Bos grunniens - no genomic information (-..-) PMEL Ensembl

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
Coat colour, dilution PMEL deletion, small (<=20) c.50_52del p.Leu18de 2014 24989079

Reference


2014 Zhang, M.Q., Xu, X., Luo, S.J. :
The genetics of brown coat color and white spotting in domestic yaks (Bos grunniens). Anim Genet 45:652-9, 2014. Pubmed reference: 24989079. DOI: 10.1111/age.12191.

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  • Created by Frank Nicholas on 30 Apr 2015