OMIA:001701-60463 : Feather colour, blue in Agapornis fischeri (Fischer's lovebird)

In other species: chicken , budgerigar , yellow-collared lovebird

Categories: Pigmentation phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2024

Molecular basis: Ke et al. (2024) "investigated the genetic basis of the blue phenotypes in two species of Agapornis parrots, Fischer's lovebird (A. fischeri) and Yellow-collared lovebird (A. personatus). Using whole-genome data, we identified a single genomic region with size <2 Mb to be strongly associated with the color difference between blue and wild-type (WT) birds in both species. Surprisingly, we discovered that the mutation associated with the blue Agapornis phenotype [OMIAvariantID:1670, c.1930C>T, p.(R644W)] was identical to the previously described substitution causing the functional change of MuPKS in budgerigars."

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
MuPKS Agapornis fischeri - no genomic information (-..-) MuPKS 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
1670 Feather colour, blue MuPKS missense Naturally occurring variant c.1930C>T p.(R644W) 2024 38528953

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001701-60463: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2024 Ke, F., van der Zwan, H., Poon, E.S.K., Cloutier, A., Van den Abeele, D., van der Sluis, R., Sin, S.Y.W. :
Convergent evolution of parrot plumage coloration. PNAS Nexus 3:pgae107, 2024. Pubmed reference: 38528953. DOI: 10.1093/pnasnexus/pgae107.

Edit History


  • Created by Imke Tammen2 on 05 Apr 2024
  • Changed by Imke Tammen2 on 05 Apr 2024