OMIA:001435-93934 : Feather colour, extended brown in Coturnix japonica (Japanese quail)

Categories: Pigmentation phene

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

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal incomplete dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2006

Species-specific symbol: E

Molecular basis: Nadeau et al. (2006) showed that this feather colour is due to missense mutation in the MC1R gene: "a G-to-A substitution leading to a Glu92Lys mutation . . . is likely to be the causative mutation for the increased melanism in [the] Extended brown" feather-colour phenotype.

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 japonica 11 NC_029526.1 (16795988..16800696) MC1R Homologene, Ensembl , NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
256 Feather colour, extended brown MC1R missense Naturally occurring variant c.?G>A p.(E92K) 2006 16734695

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:001435-93934: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2019 Li, Y.X., Zhang, X.H., Pang, Y.Z., Qi, Y.X., Zhao, S.J. :
Construction of MC1R and ASIP eukaryotic expression vector and its regulation of plumage color in Japanese quail (Coturnix japonica). J Poult Sci 56:84-90, 2019. Pubmed reference: 32055201. DOI: 10.2141/jpsa.0180058.
2017 Gluckman, T.L., Mundy, N.I. :
The differential expression of MC1R regulators in dorsal and ventral quail plumages during embryogenesis: Implications for plumage pattern formation. PLoS One 12:e0174714, 2017. Pubmed reference: 28355309. DOI: 10.1371/journal.pone.0174714.
2013 Zhang, X.H., Pang, Y.Z., Zhao, S.J., Xu, H.W., Li, Y.L., Xu, Y., Guo, Z., Wang, D.D. :
The relationship of plumage colours with MC1R (Melanocortin 1 Receptor) and ASIP (Agouti Signaling Protein) in Japanese quail (Coturnix coturnix japonica). Br Poult Sci 54:306-11, 2013. Pubmed reference: 23639082. DOI: 10.1080/00071668.2013.780122.
2009 Minvielle, F., Cecchi, T., Passamonti, P., Gourichon, D., Renieri, C. :
Plumage colour mutations and melanins in the feathers of the Japanese quail: a first comparison. Anim Genet 40:971-4, 2009. Pubmed reference: 19496774. DOI: 10.1111/j.1365-2052.2009.01929.x.
2006 Nadeau, NJ., Minvielle, F., Mundy, NI. :
Association of a Glu92Lys substitution in MC1R with extended brown in Japanese quail (Coturnix japonica). Anim Genet 37:287-9, 2006. Pubmed reference: 16734695. DOI: 10.1111/j.1365-2052.2006.01442.x.

Edit History


  • Created by Frank Nicholas on 22 Oct 2008
  • Changed by Frank Nicholas on 08 Sep 2011
  • Changed by Frank Nicholas on 12 Sep 2011
  • Changed by Frank Nicholas on 12 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 Mar 2012
  • Changed by Frank Nicholas on 31 Mar 2017
  • Changed by Imke Tammen2 on 30 Aug 2021