OMIA 000375-93934 : Feather colour, panda/dotted white in Coturnix japonica

In other species: mallard

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2007

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."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
EDNRB2 Coturnix japonica - no genomic information (-..-) EDNRB2 Ensembl

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Feather colour, panda/dotted white EDNRB2 missense c.995G>A p.R332H 2007 17313575

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.
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.

Edit History


  • 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