--- license: permission_granted topic_id: companion_breed_health_german_pointer_omia3315_dog category: companion-breed-health title: "German Pointer — Epidermolysis bullosa, junctionalis, LAMA3-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/german_pointer_omia3315_3315.txt date_parsed: 2026-08-02 tokens_estimated: 193 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_german_pointer_omia3315_dog/01_companion_breed_health_german_pointer_omia3315_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: "German Pointer — Epidermolysis bullosa, junctionalis, LAMA3-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001677/9615/" 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
German Pointer — Epidermolysis bullosa, junctionalis, LAMA3-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: German Pointer (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Herrmann et al. (2021): Five of eight puppies in an Australian cattle dog cross-bred litter showed signs of skin fragility. Three were stillborn and one died at one month of age. The two surviving puppies were presented with blistering skin disease and severe respiratory distress.Defect: yesPathology: Herrmann et al. (2021): “Histopathological results revealed subepidermal clefts and electron microscopy confirmed the split in the lamina lucida. Post-mortem examination documented extensive pharyngeal and laryngeal lesions with granulation tissue and fibrinous exudate obscuring the airway.”
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 3479814 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Capt et al. (2005) were able to report that "The condition is associated with reduced expression of laminin 5 caused by a homozygous insertion (4818+207ins6.5 kb) of repetitive satellite DNA within intron 35 of the gene (LAMA3) for the laminin alpha3 chain. The intronic mutation interferes …
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.
- 1997. Absent expression of collagen xvii (BPAG2, BP180) in canine familial localized junctional epidermolysis bullosa. Vet Dermatol — PubMed:PMID34644840 | DOI:10.1046/j.1365-3164.1997.d01-17.x — OMIA Phene_Article / Article
- 1997. Non-lethal junctional epidermolysis bullosa in a dog. British Journal of Dermatology — PubMed:PMID9349347 — OMIA Phene_Article / Article
- 2005. Inherited junctional epidermolysis bullosa in the German Pointer: establishment of a large animal model. J Invest Dermatol — PubMed:PMID15737193 | DOI:10.1111/j.0022-202X.2004.23584.x — OMIA Phene_Article / Article
- 2003. Junctional epidermolysis bullosa in the german shorthaired pointer: a spontaneous model for junctional epidermolysis bullosa in man. Bull Acad Vet France — OMIA Phene_Article / Article
- 2021. Canine junctional epidermolysis bullosa due to a novel mutation in LAMA3 with severe upper respiratory involvement. Vet Dermatol — PubMed:PMID34250689 | DOI:10.1111/vde.12972 — OMIA Phene_Article / Article
- 2021. Genetic trend of the junctional epidermolysis bullosa in the German shorthaired pointer in Italy. Vet Rec Open — PubMed:PMID34457315 | DOI:10.1002/vro2.15 — 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
- 2010. Prevalence of inherited junctional epidermolysis bullosa in German shorthaired pointers bred in Italy. Vet Rec — PubMed:PMID21257512 | DOI:10.1136/vr.c5178 — 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:600805 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:245660 (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."