--- license: permission_granted topic_id: companion_breed_health_german_shorthaired_pointer_omia4075_dog category: companion-breed-health title: "German Shorthaired Pointer — Lethality, BTBD17-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_shorthaired_pointer_omia4075_4075.txt date_parsed: 2026-08-02 tokens_estimated: 96 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_german_shorthaired_pointer_omia4075_dog/01_companion_breed_health_german_shorthaired_pointer_omia4075_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 — Lethality, BTBD17-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002132/9615/" 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 — Lethality, BTBD17-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 Shorthaired Pointer (Dog)Disorder:Mode of inheritance: Autosomal recessive lethalSummary: See also 'OMIA:000901-9615 : XX difference of sexual development, generic in Canis lupus familiaris' for the association of the BTBD17 variant with differences in sexual development.Defect: yes
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 388249908 (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.
- 2017. XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris). PLoS One — PubMed:PMID29053721 | DOI:10.1371/journal.pone.0186331 — OMIA Phene_Article / Article
- 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article
- 2025. Survey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds. Anim Genet — PubMed:PMID40965331 | DOI:10.1111/age.70042 — OMIA Phene_Article / Article
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."