OMIA:000375-93934 : Feather colour, white spotting, EDNRB2-related in Coturnix japonica (Japanese quail)
Categories: Pigmentation phene
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: 2007
Cross-species summary: Renamed from 'Feather colour, panda/dotted white' [12/08/2023], also called piebald
Species-specific symbol: s
Molecular basis: As reported by Miwa et al. (2007), in relation to the EDNRB2 gene, "Sequence comparison among transcripts from livers of wild-type, panda and dotted white quail revealed a nucleotide substitution (c.995G>A) leading to a p.R332H amino acid change that was specific to panda, whereas no amino acid substitution was found in dotted white birds. The amino acid position 332 is located in the sixth transmembrane domain and is highly conserved in both avian and mammalian endothelin receptors."
Have human generated variants been created, e.g. through genetic engineering and gene editing
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|EDNRB2||Coturnix japonica||4||NC_029519.1 (10724191..10734953)||EDNRB2||Homologene, Ensembl , NCBI gene|
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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|
|257||Feather colour, panda/dotted white||EDNRB2||missense||Naturally occurring variant||c.995G>A||p.(R332H)||2007||17313575|
Cite this entry
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.
|2007||Miwa, M., Inoue-Murayama, M., Aoki, H., Kunisada, T., Hiragaki, T., Mizutani, M., Ito, S. :|
|Endothelin receptor B2 (EDNRB2) is associated with the panda plumage colour mutation in Japanese quail. Anim Genet 38:103-8, 2007. Pubmed reference: 17313575. DOI: 10.1111/j.1365-2052.2007.01568.x.|
|2006||Miwa, M., Inoue-Murayama, M., Kobayashi, N., Kayang, BB., Mizutani, M., Takahashi, H., Ito, S. :|
|Mapping of panda plumage color locus on the microsatellite linkage map of the Japanese quail. BMC Genet 7:2, 2006. Pubmed reference: 16405738. DOI: 10.1186/1471-2156-7-2.|
|1993||Tsudzuki, M., Nakane, Y., Wakasugi, N., Mizutani, M. :|
|Allelism of Panda and Dotted White Plumage Genes in Japanese Quail Journal of Heredity 84:225-229, 1993. Pubmed reference: 8228175.|
|1992||Tsudzuki, M., Kusano, S., Wakasugi, N., Morioka, H., Esaki, K. :|
|Dotted white--a plumage color mutant in Japanese quail (Coturnix coturnix japonica). Jikken Dobutsu 41:25-31, 1992. Pubmed reference: 1740163.|
|1974||Mizutani, M., Chiho, K., Umezawa, H., Kuramasu, S. :|
|[Genetic analysis of a new plumage—panda in Japanese quail] (in Japanese with English summary) Exp Animal 23:59-61, 1974.|
- Created by Frank Nicholas on 24 Jan 2008
- Changed by Frank Nicholas on 12 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 Mar 2012