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OMIA:000369-9135 : Feather colour, albinism in Serinus canaria (common canary)

In other species: northern bobwhite , chicken , budgerigar

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 203100 (trait) , 606933 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: no

Key variant known: yes

Year key variant first reported: 2024

Species-specific name: Acromelanism; pearl

Molecular basis: Guimarães-Moreira et al. (2024) "compared the genomes of pearl and non-pearl canaries and searched for potentially causative genetic mutations. [The authors] results suggest that the pearl phenotype is caused by a mutation in the TYR gene encoding a TYR-P45H missense substitution."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR tyrosinase Serinus canaria 1 NC_066313.1 (34568274..34610092) TYR 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 Year Published PubMed ID(s) Acknowledgements
1748 Feather colour, pearl TYR missense Naturally occurring variant serCan2020 1 NC_066313.1:g.34568603C>A XM_009102738.4:c.134C>A XP_009100986.1:p.(P45H) 2024 39377483
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000369-9135: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2024 Guimarães-Moreira, M., Marques, C.I., Afonso, S., Lacerda, B., Carneiro, M., Araújo, P.M. :
A missense mutation in the tyrosinase gene explains acromelanism in domesticated canaries. Anim Genet 55:838-842, 2024. Pubmed reference: 39377483. DOI: 10.1111/age.13481.

Edit History


  • Created by Imke Tammen2 on 11 Oct 2024
  • Changed by Imke Tammen2 on 11 Oct 2024