OMIA:002155-46218 : Feather colour, red breasted in Coturnix chinensis (Chinese painted quail)

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 recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2018

Molecular basis: Araguas et al. (2018) reported p.Pro292Leu as a likely causal variant for the Red Breasted trait.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1003 Feather colour, Red Breasted MC1R missense Naturally occurring variant p.(P292L) 2018 29974967

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2018). OMIA:002155-46218: 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