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."