OMIA:002156-46218 : Feather colour, Blue Face in Coturnix chinensis
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 155555 (gene) , 266300 (trait)
Links to MONDO diseases: No links.
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).
|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.
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|
|1002||Feather colour, Blue Face||MC1R||missense||Naturally occurring variant||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.|
- Created by Frank Nicholas on 03 Aug 2018