OMIA:000240-8839 : Crest in Anas platyrhynchos (Mallard) |
In other species: domestic goose , rock pigeon , chicken , budgerigar , ringneck dove
Categories: Integument (skin) phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2023
Cross-species summary: Also called feather-crested head.
Molecular basis: Chang et al. (2023) identified a likely causal variant for the crested cushion in Chinese crested ducks in the 5′UTR of TAS2R40 (123272114_c. G78A of TAS2R40).
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 |
|---|---|---|---|---|---|---|
| TAS2R40 | Taste Receptor, type 2, member 40 | Anas platyrhynchos | - | no genomic information (-..-) | TAS2R40 | 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.
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1620 | Crest cushion | TAS2R40 | regulatory | Naturally occurring variant | 1 | published as variant in the 5′UTR of TAS2R40 (123272114_c. G78A) | 2023 | 37652165 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000240-8839: 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.
| 2023 | Chang, G., Yuan, X., Guo, Q., Bai, H., Cao, X., Liu, M., Wang, Z., Li, B., Wang, S., Jiang, Y., Wang, Z., Zhang, Y., Xu, Q., Song, Q., Pan, R., Qiu, L., Gu, T., Wu, X., Bi, Y., Cao, Z., Zhang, Y., Chen, Y., Li, H., Liu, J., Dai, W., Chen, G. : |
| The first crested duck genome reveals clues to genetic compensation and crest cushion formation. Genomics Proteomics Bioinformatics , 2023. Pubmed reference: 37652165. DOI: 10.1016/j.gpb.2023.08.002. | |
| 2001 | Bartels, T., Brinkmeier, J., Portmann, S., Baulain, U., Zinke, A., Krautwald-Junghanns, M.E., Boos, A., Wolf, P., Kummerfeld, N. : |
| Magnetic resonance imaging of intracranial tissue accumulations in domestic ducks (Anas platyrhynchos f. dom.) with feather crests. Vet Radiol Ultrasound 42:254-8, 2001. Pubmed reference: 11405270. DOI: 10.1111/j.1740-8261.2001.tb00936.x. | |
| Bartels, T., Brinkmeier, J., Portmann, S., Krautwald-Junghanns, M.E., Kummerfeld, N., Boos, A. : | |
| Osteological investigations of the incidence of cranial alterations in domestic ducks (Anas platyrhynchos f. dom.) with feather crests. Ann Anat 183:73-80, 2001. Pubmed reference: 11206986. DOI: 10.1016/S0940-9602(01)80017-0. | |
| 2000 | Bartels, T., Krautwald-Junghanns, M.E., Portmann, S., Brinkmeier, J., Kummerfeld, N., Sohn, H.G., Dorsch, B. : |
| The use of conventional radiography and computer-assisted tomography as instruments for demonstration of gross pathological lesions in the cranium and cerebrum in the crested breed of the domestic duck (Anas platyrhynchos f.dom.). Avian Pathol 29:101-8, 2000. Pubmed reference: 19184795. DOI: 10.1080/03079450094126. |
Edit History
- Created by Imke Tammen2 on 04 Sep 2023