OMIA 001252-8843 : Feather colour, recessive white in Anser anser

In other species: chicken

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2020

Molecular basis: Xi et al. (2020) identified "a 14-bp insertion (NW_013185915.1: g. 750,748–750,735 insertion. CACAGGTGAGCTCT) in exon 3 of EDNRB2 . . . [that] was homozygous in all the white geese we detected and heterozygous in gray geese, indicating that this mutation is recessive. Furthermore, this 14-bp insertion leads to a frameshift mutation in the EDNRB2 coding region and nonsense-mediated mRNA decay."

Breed: Gang.

Associated gene:

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

Variants

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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.

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
Gang Feather colour, recessive white EDNRB2 insertion, small (<=20) AnsCyg_PRJNA183603_v1.0 g.750748_750735insCACAGGTGAGCTCT "NW_013185915.1: g. 750,748-750,735 insertion. CACAGGTGAGCTCT" (Xi et al., 2020) 2020 32066369

Reference


2020 Xi, Y., Wang, L., Liu, H., Ma, S., Li, Y., Li, L., Wang, J., Chunchun, H., Bai, L., Mustafa, A., He, H. :
A 14-bp insertion in endothelin receptor B-like (EDNRB2) is associated with white plumage in Chinese geese. BMC Genomics 21:162, 2020. Pubmed reference: 32066369. DOI: 10.1186/s12864-020-6562-8.

Edit History


  • Created by Frank Nicholas on 25 Feb 2020
  • Changed by Frank Nicholas on 25 Feb 2020