--- license: permission_granted topic_id: companion_breed_health_maine_coon_dominant_blue_eyes_dbe_cat category: companion-breed-health title: "Maine Coon — Dominant blue eyes (DBE) (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/maine_coon_dominant_blue_eyes_dbe_5812.txt date_parsed: 2026-08-02 tokens_estimated: 614 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_maine_coon_dominant_blue_eyes_dbe_cat/01_companion_breed_health_maine_coon_dominant_blue_eyes_dbe_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Maine Coon — Dominant blue eyes (DBE) (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001688/9685/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Maine Coon — Dominant blue eyes (DBE) (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Maine Coon (Cat)Disorder: Dominant blue eyes (DBE)Mode of inheritance: Autosomal dominantSummary: Abitbol et al. (2024, PMID:38644700): “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.”Clin feat: Abitbol et al. (2024, PMID: 38997957) report that DBE includes one or two blue eyes or particolored eyes and minimal white spotting. Different feline breeding lines were developed for DBE, and in some lineages, deafness has been identified as being associated with this trait.nbsp;nbsp;brRudd Garces et al. (2024) report that some Main Coon cats with dominant blue eyes exhibited signs of deafness. The authors suspect that homozygosity for the emPAX3/em:c.937Cgt;T [DBEsupRE/sup, omia.variant:1659] allele may result in embryonic or fetal lethality.brAbitbol et al. (2025): [R]egarding deafness in DBE cats, it is associated with the emDBE/emsupemRE/em/supnbsp;variant, but further data are needed to determine its prevalence. Deafness has not been associated with thenbsp;emDBE/emsupemCEL/em/supnbsp;andnbsp;emDBE/emsupemALT/em/supnbsp;variants in heterozygous cats but in compoundnbsp;emDBE/emsupemCEL/em/sup/emDBE/emsupemALT/em/supnbsp;heterozygous and innbsp;emDBE/emsupemALT/em/supem/DBE/emsupemALT/em/supnbsp;homozygous cats (Abitbol, Couronné, etnbsp;al.,nbsp;2024; Abitbol, Dufaure de Citres, etnbsp;al.,nbsp;2024). Data are lacking for the newnbsp;emDBE/emsupemAGO/em/supnbsp;variant, due to the recent history of this lineage.Defect: yesControl: Rudd Garces et al. (2024) conclude that the mating of 2 heterozygous emPAX3/em:c.937Cgt;T [DBEsupRE/sup, omia.variant:1659] cats is not recommended in order to avoid the accidental production of an embryo homozygous for this allele. Additionally, mating a carrier with a wild-type animal is also not recommended to prevent the birth of blue-eyed deaf cats.
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 398298864 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Abitbol et al. (2024, PMID:38644700): “Whole genome sequencing of a Celestial cat revealed an endogenous retrovirus LTR (long terminal repeat) insertion [NC_018730.3:g.206974029_206974030insN[395], omia.variant:1685] within <em>PAX3</em> intron 4 known to contain regulatory sequences (conserved non-coding element [CNE]) involved in <em>PAX3</em> expression. The insertion is in the v…
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 2024. A PAX3 insertion in the Celestial breed and certain feline breeding lines with dominant blue eyes. Anim Genet — PubMed:PMID38644700 | DOI:10.1111/age.13433 — OMIA Phene_Article / Article
- 2024. Different founding effects underlie dominant blue eyes (DBE) in the domestic cat. Animals (Basel) — PubMed:PMID38997957 | DOI:10.3390/ani14131845 — OMIA Phene_Article / Article
- 2024. PAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome. G3 (Bethesda) — PubMed:PMID38869246 | DOI:10.1093/g3journal/jkae131 — OMIA Phene_Article / Article
- 2025. Dominant blue eyes in Maine Coon cats: New PAX3 variant and updated phenotypic data. Anim Genet — PubMed:PMID40459211 | DOI:10.1111/age.70020 — OMIA Phene_Article / Article
- 2026. Correction to: PAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome. G3 (Bethesda) — PubMed:PMID42334868 | DOI:10.1093/g3journal/jkag156 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:193500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:148820 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:606597 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."