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 (gene)

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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
540 Coat colour, dilution PMEL deletion, small (<=20) Naturally occurring variant c.50_52del p.(L18del) 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.

Edit History


  • Created by Frank Nicholas on 30 Apr 2015