--- license: permission_granted topic_id: companion_breed_health_miniature_schnauzer_omia3748_dog category: companion-breed-health title: "Miniature Schnauzer — Spondylocostal dysostosis, autosomal recessive (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/miniature_schnauzer_omia3748_3748.txt date_parsed: 2026-08-02 tokens_estimated: 351 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_miniature_schnauzer_omia3748_dog/01_companion_breed_health_miniature_schnauzer_omia3748_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: "Miniature Schnauzer — Spondylocostal dysostosis, autosomal recessive (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001944/9615/" 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
Miniature Schnauzer — Spondylocostal dysostosis, autosomal recessive (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: Miniature Schnauzer (Dog)Disorder:Mode of inheritance: Autosomal recessive lethalSummary: Also called Comma defect (Willet et al., 2015), due to the gross anatomical shape of the abnormal pups.Clin feat: As reported by Willet et al. (2015), The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number. Also, The three affected pups were born stillborn or died within hours of birth. Gross external examination of the pups by the attending veterinarian revealed a reduction in body length compared with normal littermates (data not available). The hindquarters of affected pups were reduced in size compared to the forequarters, giving an overall comma-like morphology to the body. One of the affected samples had umbilical hernia and another had a cleft hard palate.Defect: yesPrevalence: Willet et al. (2015) tested 127 Miniature Schnauzers and six Standard Schnauzers for the deletion. Only the three affected pups tested homozygous for the mutant allele, and four family members tested heterozygous, giving an estimated allele frequency of 0.04 for the eastern Australian population tested. Carrier imported family members from Sweden and Argentina suggest that the allele may be globally dispersed.
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 388306975 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Comparative analysis by Willet et al. (2015), based on location and phenotype in the mouse, revealed 19 positional comparative candidate genes. Whole-genome sequencing of two of the affected sibs revealed 5 candidate functional mutations, which were subsequently narrowed down to the causal mutation, a "guanine deletion at CFA5:35,940,090 (CFA5:32,945,846 in canFam3.1) within exon 2 of HES7 (c.126d…
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.
- 2015. Canine Disorder Mirrors Human Disease: Exonic Deletion in HES7 Causes Autosomal Recessive Spondylocostal Dysostosis in Miniature Schnauzer Dogs. PLoS One — PubMed:PMID25659135 | DOI:10.1371/journal.pone.0117055 — 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
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:613686 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:608059 (type: gene) — 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."