--- license: permission_granted topic_id: companion_breed_health_comtois_horse_junctional_epidermolysis_bullosa_horse category: companion-breed-health title: "Comtois (Horse) — Junctional epidermolysis bullosa (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 2026-08-23 from local OMIA database dump." source_file: pdf-raw/breed-health/comtois_horse_junctional_epidermolysis_bullosa_3318.txt date_parsed: 2026-08-23 tokens_estimated: 378 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-23 recovered: false path: companion-breed-health/companion_breed_health_comtois_horse_junctional_epidermolysis_bullosa_horse/01_companion_breed_health_comtois_horse_junctional_epidermolysis_bullosa_horse.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Comtois (Horse) — Junctional epidermolysis bullosa (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001678/9796/" retrieved: "2026-08-23" 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
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."---
Comtois (Horse) — Junctional epidermolysis bullosa (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: Comtois (Horse)Disorder: Junctional epidermolysis bullosaMode of inheritance: Autosomal recessiveSummary: Several cases of junctional epidermolysis bullosa (JEB) were described for Belgian draft horse foals and similarity to a condition in humans was identified (Frame et al., 1988; Johnson et al. 1988; Kohn et al., 1989; Shapiro and McEwen, 1995). A likely causal variant was identified in the LAMC2 gene (Spirito et al., 2002). The same variant was later reported to cause JEB in the Trait Briton and the Trait Comtois draft horses in France (Milenkovic et al., 2003), and in an Italian draft horse (Cappelli et al., 2015). [IT thanks Margaret Higgins, working under the guidance of Professor Ernie Bailey, for contributions to this entry in April 2022]Clin feat: Lesions can be present at birth or develop over a short period of time and are characterized by the development of vesicles and bullae that rapidly progress to erosions and ulcerations at sites of minor trauma such as the lips, the oral mucosa, and distal extremities and the coronary band, with resulting sloughing of the hoofs ... . Lesions can be secondarily affected or become pustules. Affected animals may die soon after birth due to inability to suckle.“ (Capelli et al. 2015)Defect: yesPathology: Spirito et al. (2002): Electron microscopy examination revealed junctional blistering and abnormal hemidesmosomes (Johnson et al., 1988)
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 3645968 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
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.
- 1988. Hereditary junctional mechanobullous disease in a foal. Journal of the American Veterinary Medical Association — PubMed:PMID3209456 — OMIA Phene_Article / Article
- 1995. Mechanobullous disease in a Belgian foal in eastern Ontario. Canadian Veterinary Journal — OMIA Phene_Article / Article
- 1989. Mechanobullous disease in two Belgian foals. Equine Veterinary Journal — PubMed:PMID2767032 — OMIA Phene_Article / Article
- 1988. Ultrastructure of junctional epidermolysis bullosa in Belgian foals. J Comp Pathol — PubMed:PMID3204167 | DOI:10.1016/0021-9975(88)90053-9 — OMIA Phene_Article / Article
- 2003. A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds. Genetics Selection Evolution — PubMed:PMID12633536 | DOI:10.1051/gse:2003007 — OMIA Phene_Article / Article
- 2002. Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse. J Invest Dermatol — PubMed:PMID12230513 | DOI:10.1046/j.1523-1747.2002.01852.x — OMIA Phene_Article / Article
- 2003. Junctional epidermolysis bullosa in Belgian draft horses. Proc Am Assoc Equine Practnr — OMIA Phene_Article / Article
- 2015. First report of junctional epidermolysis bullosa (JEB) in the Italian draft horse. BMC Vet Res — PubMed:PMID25889423 | DOI:10.1186/s12917-015-0374-0 — 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:226700 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:226650 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:150292 (type: gene) — OMIA Group_OMIM (via OMIA_ID)