OMIA:000375-8839 : Feather colour, white spotting, EDNRB2-related in Anas platyrhynchos (Mallard)
Categories: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2016
Cross-species summary: Renamed from 'Feather colour, panda/dotted white' [12/08/2023], also called piebald
Species-specific name: Spot plumage pattern
Molecular basis: Li et al. (2016): "The c.995G>A mutation, which results in the amino acid substitution of Arg332His, was completely associated with the spot phenotype".
Xi et al. (2021) "revealed that EDNRB2 was the gene responsible for the variation in duck body surface spot size. Chr4: 10,180,939 T > C was the major allele that explained 49.5 % (dorsal side) and 32.9 % (ventral side) of the variation in duck body surface spot size, while 32.1 % (dorsal side) and 19.1 % (ventral side) of the variation could be explained by Chr4: 10,190,671 A > T."
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||Anas platyrhynchos||10||NC_051781.1 (6455252..6449173)||EDNRB2||Homologene, Ensembl , NCBI gene|
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.
|2021||Xi, Y., Xu, Q., Huang, Q., Ma, S., Wang, Y., Han, C., Zhang, R., Wang, J., Liu, H., Li, L. :|
|Genome-wide association analysis reveals that EDNRB2 causes a dose-dependent loss of pigmentation in ducks. BMC Genomics 22:381, 2021. Pubmed reference: 34034661. DOI: 10.1186/s12864-021-07719-7.|
|2015||Li, L., Li, D., Liu, L., Li, S., Feng, Y., Peng, X., Gong, Y. :|
|Endothelin receptor B2 (EDNRB2) gene is associated with spot plumage pattern in domestic ducks (Anas platyrhynchos). PLoS One 10:e0125883, 2015. Pubmed reference: 25955279. DOI: 10.1371/journal.pone.0125883.|
|2010||Gong, Y., Yang, Q., Li, S., Feng, Y., Gao, C., Tu, G., Peng, X. :|
|Grey plumage colouration in the duck is genetically determined by the alleles on two different, interacting loci. Anim Genet 41:105-8, 2010. Pubmed reference: 19814756. DOI: 10.1111/j.1365-2052.2009.01967.x.|
- Created by Frank Nicholas on 05 May 2016
- Changed by Frank Nicholas on 05 May 2016
- Changed by Imke Tammen2 on 01 Jun 2021