OMIA:002155-46218 : Feather colour, red breasted 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)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: 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.
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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. |
Edit History
- Created by Frank Nicholas on 03 Aug 2018