OMIA:001701-232655 : Feather colour, blue in Psittacula eupatria (Alexandrine parakeet) |
In other species: chicken , Rose-ringed parakeet , budgerigar , Fischer's lovebird , yellow-collared lovebird , Eclectus parrot , galah
Categories: Pigmentation phene
Single-gene trait/disorder: yes
Disease-related: no
Key variant known: yes
Year key variant first reported: 2025
Molecular basis: Ghosh Roy et al. (2025) investigated the candidate gene PKS, which has been associated with defective psittacofulvin production in birds, for likely causal variants for the blue feather phenotype: "Among 11 blue specimens of P. eupatria, 6 individuals showed a nonsense mutation (c.2647 A > T) at exon six changing the lysine 883 into a premature stop codon (SNP frequency: 54.55%), while 5 individuals showed a missense mutation (c.728 G > A) at exon five, changing the arginine 243 to lysine (SNP frequency: 45.45%)."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PKS | Polyketide synthase | Psittacula eupatria | - | no genomic information (-..-) | PKS | 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 | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1865 | Feather colour, blue | PKS | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently evaluated | c.2647A>T | p.(K883*) | 2025 | 39820005 | ||||||||
| 1866 | Feather colour, blue | PKS | substitution | missense | Naturally occurring variant | Not currently evaluated | c.727G>A | p.(R243K) | 2025 | 39820005 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:001701-232655: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Ghosh Roy, S., Brejcha, J., Maršík, P., Bakhrat, A., Abdu, M., Arbore, R., Araújo, P.M., Afonso, S., Carneiro, M., Grossman-Haham, I., Abdu, U. : |
| Multiple mutations in polyketide synthase led to disruption of Psittacofulvin production across diverse parrot species. Commun Biol 8:69, 2025. Pubmed reference: 39820005. DOI: 10.1038/s42003-025-07537-7. |
Edit History
- Created by Imke Tammen2 on 06 Jan 2026
- Changed by Imke Tammen2 on 06 Jan 2026