--- license: permission_granted topic_id: companion_breed_health_australian_shepherd_omia4338_dog category: companion-breed-health title: "Australian Shepherd — Epidermolysis bullosa, junctionalis, LAMB3-related (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/australian_shepherd_omia4338_4338.txt date_parsed: 2026-08-02 tokens_estimated: 378 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_australian_shepherd_omia4338_dog/01_companion_breed_health_australian_shepherd_omia4338_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Australian Shepherd — Epidermolysis bullosa, junctionalis, LAMB3-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002269/9615/" 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
Australian Shepherd — Epidermolysis bullosa, junctionalis, LAMB3-related (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: Australian Shepherd (Dog)Disorder:Mode of inheritance: Autosomal recessiveSummary: In epidermolysis bullosa (EB), the epidermis easily detaches from the underlying dermis. Currently four subtypes of EB are distinguished: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler EB. At the time of preparing this entry, 16 different EB genes were known in human genetics (Has et al. 2020).Clin feat: Affected puppies developed widespread ulcers of the skin, footpads, and oral mucosa within the first weeks of life. The average weight was about half that of their unaffected siblings. Due to the severity of the phenotype affected dogs were euthanized between 4 and 7.5 months of age (Kiener et al. 2020). The skin lesions were not seen at birth and developed only during the first weeks of life. This led to the classification of a JEB of intermediate severity (Kiener et al. 2020).Defect: yesPathology: Microscopically, the skin and mucosal biopsy samples all exhibited limited-to-widespread epidermal detachment, and ulcers were covered with serocellular crusts; inflammation was sparse in non-ulcerated areas. In some sections, the basement membrane could be discerned at the base of the clefts, thus suggesting the diagnosis of JEB. Epithelial detachment was also noted in an intestinal biopsy taken from duodenum during endoscopy of one of the affected puppies (Kiener et al. 2020).
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 388221477 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Kiener et al. (2020) studied an Australian Shepherd family consisting of the parents, three affected and two unaffected puppies. The litter was the result of a father-daughter mating. Analysis of whole genome sequence data from one affected puppy and 73 healthy control dogs was performed. The analysis was focused on 37 functional candidate genes known to cause human skin fragility phenotypes. The …
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.
- 2020. LAMB3 missense variant in Australian Shepherd dogs with junctional epidermolysis bullosa. Genes (Basel) — PubMed:PMID32906717 | DOI:10.3390/genes11091055 — OMIA Phene_Article / Article
- 2020. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol — PubMed:PMID32017015 | DOI:10.1111/bjd.18921 — OMIA Phene_Article / Article
- 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article
- 2022. Inheritance of monogenic hereditary skin disease and related canine breeds. Vet Sci — PubMed:PMID36006348 | DOI:10.3390/vetsci9080433 — 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:150310 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:226700 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:226650 (type: trait) — 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."