OMIA 002156-46218 : Feather colour, Blue Face in Coturnix chinensis

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 155555 (gene) , 266300 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Co-Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2018

Molecular basis: Araguas et al. (2018) reported p.Glu92Lys as a likely causal variant for Blue Face, noting that this is the same variant as causing Extended Brown in Japanese quail (OMIA 001435-93934).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MC1R Coturnix chinensis - no genomic information (-..-) MC1R Ensembl


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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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
Feather colour, Blue Face MC1R missense p.(E92K) 2018 29974967


2018 Araguas, R.M., Sanz, N., Viñas, J., Vidal, O., Araguas, R.M., Sanz, N., Viñas, J., Vidal, O. :
MC1R polymorphism associated with plumage color variations in Coturnix chinensis. Anim Genet 49:475-477, 2018. Pubmed reference: 29974967. DOI: 10.1111/age.12679.

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  • Created by Frank Nicholas on 03 Aug 2018