OMIA:001688-9685 : Auditory-pigmentary syndrome, PAX3-related in Felis catus (domestic cat)

In other species: horse

Categories: Pigmentation phene , Hearing / vestibular / ear phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 193500 (trait) , 148820 (trait) , 606597 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: The name of this phene was changed from "Coat colour, white spotting, PAX3-related" to "Auditory-pigmentary syndrome, PAX3-related" on 01-Mar-2024.
The phene includes altered pigmentation of the eyes and/or skin together with a predisposition for unilateral or bilateral sensineural deafness. Affected animals often have blue eyes or eyes with different colors (heterochromia iridis). Skin pigmentation may include variable degrees of white spotting ranging from tiny white spots up to completely white animals. The absence of pigment is caused by the absence of melanocytes ("leucism"), not by a failure in the biochemical reactions required for pigment synthesis. The increased risk for deafness is the consequence of lacking melanocytes in the stria vascularis of the inner ear.

Species-specific name: Dominant blue eyes (DBE)

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
PAX3 paired box 3 Felis catus C1 NC_058375.1 (205862614..205765203) PAX3 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
1659 Deafness and blue eye colour PAX3 unpublished Entry has been created to generate an OMIAvariantID for a variant that is currently in the process of being published. Information will be updated once manuscript has been published. 2024 Reference not in PubMed; see OMIA 001688-9685 for reference details

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001688-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2024 [No authors listed] :
UNPUBLISHED , 2024.

Edit History


  • Created by Imke Tammen2 on 23 Jan 2024
  • Changed by Imke Tammen2 on 23 Jan 2024
  • Changed by Tosso Leeb on 01 Mar 2024