OMIA:002156-46218 : Feather colour, Blue Face in Coturnix chinensis (Chinese painted quail)

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 155555 (gene) , 266300 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal co-dominant

Disease-related: 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

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.

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 Year Published PubMed ID(s) Acknowledgements
1002 Feather colour, Blue Face MC1R missense Naturally occurring variant p.(E92K) 2018 29974967

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2018). OMIA:002156-46218: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

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