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

In other species: horse

Categories: Pigmentation phene , Hearing / vestibular / ear phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 193500 (trait) , 148820 (trait) , 606597 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2024

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)

Species-specific symbol: DBE

Species-specific description: Abitbol et al. (2024): “minimal white spotting associated with blue eyes was selected by feline breeders to create the Altai, Topaz, and Celestial breeds. Various established breeds also introduced this trait in their lineages. The trait, that was confirmed as autosomal dominant by breeding data, was first described in domestic cats from Kazakhstan and Russia, in British shorthair and British longhair from Russia, and in Maine Coon cats from the Netherlands, suggesting different founding effects.”

Mapping: Abitbol et al. (2024): “Using a genome-wide association study [the authors] identified a single region on chromosome C1 that was associated with the minimal white spotting and blue eyes phenotype (also called DBE by breeders for dominant blue eyes) in the French Celestial breed. Within that region we identified Paired Box 3 (PAX3) as the strongest candidate gene, since PAX3 is a key regulator of MITF (Melanocyte-Inducing Transcription Factor) and PAX3 variants have been previously identified in various species showing white spotting with or without blue eyes including the mouse and the horse.” See also OMIA:001688-9796 : Auditory-pigmentary syndrome, PAX3-related in Equus caballus (horse)            

Molecular basis: Abitbol et al. (2024): “Whole genome sequencing of a Celestial cat revealed an endogenous retrovirus LTR (long terminal repeat) insertion [NC_018730.3:g.206974029_206974030insN[395] ] within PAX3 intron 4 known to contain regulatory sequences (conserved non-coding element [CNE]) involved in PAX3 expression. The insertion is in the vicinity of CNE2 and CNE3. All 52 Celestial and Celestial-mixed cats with a DBE phenotype presented the insertion, that was absent in their 22 non-DBE littermates and in 87 non-DBE cats from various breeds. … the variant was found in nine DBE Maine Coon cats related to the Celestial founder and four DBE Siberian cats with an uncertain origin. Segregation of the variant in the Celestial breed is consistent with dominant inheritance and does not appear to be associated with deafness.”

Breeds: British Longhair (Cat) (VBO_0100051), British Shorthair (Cat) (VBO_0100052), Celestial, Maine Coon (Cat) (VBO_0100154), Siberian (Cat) (VBO_0100223).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

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


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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
1659 Dominant blue eye colour PAX3 unpublished Naturally occurring variant C1 2024 Reference not in PubMed; see OMIA 001688-9685 for reference details
1685 Celestial Maine Coon (Cat) Siberian (Cat) Blue eye colour, domianant PAX3 DBE insertion, gross (>20) Naturally occurring variant Felis_catus 9.0 C1 NC_018730.3:g.206974029_206974030insN[395] 2024 38644700

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001688-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2024 [No authors listed] :
Abitbol, M., Couronné, A., Dufaure de Citres, C., Gache, V. :
A PAX3 insertion in the Celestial breed and certain feline breeding lines with dominant blue eyes. Anim Genet 55:670-675, 2024. Pubmed reference: 38644700. DOI: 10.1111/age.13433.

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
  • Changed by Imke Tammen2 on 26 Apr 2024