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OMIA:000375-8839 : Feather colour, white spotting, EDNRB2-related in Anas platyrhynchos (Mallard)

In other species: rock pigeon , Japanese quail

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."

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
EDNRB2 Anas platyrhynchos 10 NC_051781.1 (6455252..6449173) EDNRB2 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:000375-8839: 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.

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.

Edit History


  • Created by Frank Nicholas on 05 May 2016
  • Changed by Frank Nicholas on 05 May 2016
  • Changed by Imke Tammen2 on 01 Jun 2021