Labrador Retriever — Skeletal dysplasia 2 (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_labrador_retriever_skeletal_dysplasia_2_dog category: companion-breed-health title: "Labrador Retriever — Skeletal dysplasia 2 (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/labrador_retriever_skeletal_dysplasia_2_3471.txt date_parsed: 2026-08-02 tokens_estimated: 438 verification: method: substring_match claims: 8 passed: 8 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_labrador_retriever_skeletal_dysplasia_2_dog/01_companion_breed_health_labrador_retriever_skeletal_dysplasia_2_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: "Labrador Retriever — Skeletal dysplasia 2 (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001772/9615/" 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

Labrador Retriever — Skeletal dysplasia 2 (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: Labrador Retriever (Dog)
• Disorder: Skeletal dysplasia 2
• Mode of inheritance: Autosomal recessive
• Summary: Skeletal dysplasia 2 (SD2) is a mild form of disproportionate dwarfism in Labrador Retrievers. Affected dogs have short legs and their shoulder height is reduced by ~6 cm compared to non-affected dogs.
• Clin feat: The SD2 phenotype is characterized by short legs with normal body length and width. In most cases the forelegs are slightly more affected than the hind legs. The international breed standard calls for shoulder heights of 56 cm–57 cm in male and 54 cm–56 cm in female Labrador Retrievers, respectively. The shoulder height in affected animals is reduced by ~6 cm on average. However, it must be noted that shoulder height is only an imperfect proxy for the SD2 phenotype as shoulder height is a complex trait with significant variance due to genetic and environmental factors. According to breeders' reports SD2-affected dogs are not particurlarly prone to secondary joint degeneration or any other health problems apart from the disproportionate dwarfism.
• Defect: yes
• Prevalence: SD2 occurs predominantly in so called working lines of Labrador Retrievers. Frischknecht et al (2013) reported a carrier frequency of 12% in the European Labrador Retriever population at the time of mutation discovery.
• Gen test: There is a test available to detect the causative mutation. Affected dogs are not reliably identified by their body proportions alone and genetic heterogeneity exists. Therefore, the genetic test can help to confirm a diagnosis. Breeding animals should be tested to avoid the non-intended production of affected puppies.

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 388248885 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: By whole-genome resequencing one of the affected dogs at 30X coverage, Frischknecht et al. (2013) identified 92 non-synonymous variants in the 4.44 Mb region mentioned in the Mapping section above. Two non-synonymous variants in the critical interval were perfectly associated with SD2 in larger cohorts of dogs. Of the two that were perfectly associated with the trait the most likely causative vari…

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.

• 2013. A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism. PLoS One — PubMed:PMID23527306 | DOI:10.1371/journal.pone.0060149 — 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:184840 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:215150 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:120290 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:614524 (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."