OMIA:001904-9031 : Feather colour, mottling in Gallus gallus (chicken) |
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: 2014
Species-specific symbol: mo
Species-specific description: As described by Somes (1980), this trait is characterised by "a white tip on an otherwise black feather".
History: This trait was first described in the genetics literature by Davenport (1906).
Inheritance: Davenport (1906) reported autosomal recessive inheritance. This was confirmed by Asmundson and Milne (1930). The symbol "mo" was proposed by Hutt (1949). Somes (1980) also confirmed autosomal recessive inheritance. Carefoot (1987) reported "that pi [pied] and mo are one and the same gene for which I retain the symbol mo". A new allele at this locus, conferring white plumage with black eyes in the Minohiki breed (from Japan), was reported by Kinoshita et al. (2014), who allocated it the symbol mo^w, with the name tyrosine-independent recessive white.
Molecular basis: Adopting a comparative-candidate-gene strategy, based on a mutation in the gene EDNRB2 being causal for a similar phenotype (panda) in Japanese quail (OMIA 000375-93934), and on the appearance of an F1 hybrid between a panda (s/s) quail and a mo^w/mo^w chicken, Kinoshita et al. (2014) identified "a non-synonymous G1008T substitution, which causes Cys244Phe amino acid substitution in exon 5 (which is part of the extracellular loop between the putative fourth and fifth transmembrane domains of EDNRB2) in the mutant [mo^w] chicken. This Cys244Phe mutation was also present in individuals of four Japanese breeds with white plumage. We also identified a non-synonymous substitution [G1272A] leading to Arg332His substitution that was responsible for the mottled (mo/mo) plumage phenotype."
Breed:
Minohiki, Japan (Chicken) (VBO_0007408).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| EDNRB2 | endothelin receptor B subtype 2 | Gallus gallus | 4 | NC_052535.1 (11117090..11128197) | EDNRB2 | Homologene, Ensembl , NCBI gene |
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.
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | Feather colour, recessive white | EDNRB2 | mo^w | missense | Naturally occurring variant | GRCg6a | 4 | g.11164302G>T | c.731G>T | p.(C244F) | NM_204120.1; NP_989451.1; published as c.1008G>T and p.(C244F); coordinates in the table have been updated to a recent reference genome and / or transcript | 2014 | 24466053 | Genomic position in GRCg6a provided by Joshua Khamis. | |||
| 17 | Feather colour, mottled | EDNRB2 | mo | missense | Naturally occurring variant | GRCg6a | 4 | g.11166001G>A | c.999G>A | p.(R332H) | NM_204120.1; NP_989451.1; published as c.1272G>A and p.(R332H); coordinates in the table have been updated to a recent reference genome and / or transcript | 2014 | 24466053 | Genomic position in GRCg6a provided by Joshua Khamis. |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2014). OMIA:001904-9031: 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.
| 2020 | Andersson, L., Bed’hom, B., Chuong, CM., Inaba, M.Inaba, M., Okimoto, R.Okimoto, R., Tixier-Boichard, M. : |
| The genetic basis for pigmentation phenotypes in poultry In S. E. Aggrey, H. Zhou, M. Tixier-Boichard, & D. D. Rhoads (Eds.), Advances in Poultry Genetics and Genomics. Cambridge, UK: Burleigh Dodds Science Publishing. :, 2020. | |
| 2014 | Kinoshita, K., Akiyama, T., Mizutani, M., Shinomiya, A., Ishikawa, A., Younis, H.H., Tsudzuki, M., Namikawa, T., Matsuda, Y. : |
| Endothelin Receptor B2 (EDNRB2) Is Responsible for the Tyrosinase-Independent Recessive White (mo(w) ) and Mottled (mo) Plumage Phenotypes in the Chicken. PLoS One 9:e86361, 2014. Pubmed reference: 24466053 . DOI: 10.1371/journal.pone.0086361. | |
| 1987 | Carefoot, W.C. : |
| Evidence that the mottled (mo) and pied (pi) plumage genes of the domestic fowl are identical British Poultry Science 28:753-754, 1987. Pubmed reference: 3446343 . DOI: 10.1080/00071668708417013. | |
| 1980 | Somes, R.G. : |
| The mottling gene, the basis of six plumage color patterns in the domestic fowl. Poult Sci 59:1370-4, 1980. Pubmed reference: 7393852 . | |
| 1949 | Hutt, F.B. : |
| Genetics of the fowl. McGraw-Hill, New York. :, 1949. | |
| 1930 | Asmundson, V. S., Milne, H.I. : |
| Inheritance of plumage and skin color in the Ancona. Sci Agr 10:293-304, 1930. | |
| 1906 | Davenport, C.B. : |
| "Inheritance in poultry". Washington, D.C.: Carnegie Institution of Washington. Publication 52. :1-136, 1906. DOI: 10.5962/bhl.title.29926. |
Edit History
- Created by Frank Nicholas on 29 Jan 2014
- Changed by Frank Nicholas on 29 Jan 2014