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German Shorthaired Pointer — Epidermolysis bullosa, junctionalis (hereditary; OMIA-verified breed predisposition)

companion_breed_health_german_shorthaired_pointer_omia4758_dog

companion-breed-health en

--- license: permission_granted topic_id: companion_breed_health_german_shorthaired_pointer_omia4758_dog category: companion-breed-health title: "German Shorthaired Pointer — Epidermolysis bullosa, junctionalis (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_shorthaired_pointer_omia4758_4758.txt date_parsed: 2026-08-02 tokens_estimated: 261 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_german_shorthaired_pointer_omia4758_dog/01_companion_breed_health_german_shorthaired_pointer_omia4758_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 Shorthaired Pointer — Epidermolysis bullosa, junctionalis (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000342/9615/" 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 Shorthaired Pointer — Epidermolysis bullosa, junctionalis (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 Shorthaired Pointer (Dog)
  • Disorder:
  • Summary: Olivry et al. (1997) describe the existence of a previously unreported form of familial localized non-lethal JEB in German Shorthaired Pointer littermates. ... The defective expression of collagen XVII is likely to be caused by mutation(s) of the COL17A1 gene, as previously reported in humans.
  • Clin feat: Olivry et al. (1997) Acral, auricular and oral erosions and ulcers were observed. Severe ulceration of the footpads was present.
  • Defect: yes
  • Pathology: Olivry et al. (1997) Skin biopsy specimens of non-lesional and lesional skin of affected dogs were screened for a defect in basement membrane proteins using indirect immunofluorescence and immunoperoxidase testing. Epidermal staining for laminin-5 and integrin α6β4 was similar in affected and normal control dogs. Lack of expression of collagen XVII was uniquely identified in all sections of JEB probands compared with normal control dogs.

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.

  • 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
  • 2023. Spontaneous autoimmune subepidermal blistering diseases in animals: a comprehensive review.. BMC Vet Res — PubMed:PMID36849885 | DOI:10.1186/s12917-023-03597-1 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.

  • OMIM:226650 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:226700 (type: trait) — OMIA Group_OMIM (via OMIA_ID)

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.

  • 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
  • 2023. Spontaneous autoimmune subepidermal blistering diseases in animals: a comprehensive review. BMC Vet Res — PubMed:PMID36849885 | DOI:10.1186/s12917-023-03597-1 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.

  • OMIM:226650 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:226700 (type: trait) — OMIA Group_OMIM (via OMIA_ID)

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
  • 2023. Spontaneous autoimmune subepidermal blistering diseases in animals: a comprehensive review. BMC Vet Res — PubMed:PMID36849885 | DOI:10.1186/s12917-023-03597-1 — 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:226650 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:226700 (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."

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
  • 2023. Spontaneous autoimmune subepidermal blistering diseases in animals: a comprehensive review. BMC Vet Res — PubMed:PMID36849885 | DOI:10.1186/s12917-023-03597-1 — 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:226650 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:226700 (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."

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
  • 2023. Spontaneous autoimmune subepidermal blistering diseases in animals: a comprehensive review. BMC Vet Res — PubMed:PMID36849885 | DOI:10.1186/s12917-023-03597-1 — 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:226650 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:226700 (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."

Sources

German Shorthaired Pointer — Epidermolysis bullosa, junctionalis (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 34644840

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