Nova Scotia Duck Tolling Retriever — Skeletal dysplasia, FGF4-retrogene-related (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_nova_scotia_duck_tolling_retriever_omia4076_dog category: companion-breed-health title: "Nova Scotia Duck Tolling Retriever — Skeletal dysplasia, FGF4-retrogene-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/nova_scotia_duck_tolling_retriever_omia4076_4076.txt date_parsed: 2026-08-02 tokens_estimated: 281 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_nova_scotia_duck_tolling_retriever_omia4076_dog/01_companion_breed_health_nova_scotia_duck_tolling_retriever_omia4076_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: "Nova Scotia Duck Tolling Retriever — Skeletal dysplasia, FGF4-retrogene-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002133/9615/" 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

Nova Scotia Duck Tolling Retriever — Skeletal dysplasia, FGF4-retrogene-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: Nova Scotia Duck Tolling Retriever (Dog)
• Disorder:
• Mode of inheritance: Autosomal
• Summary: Two FGF4 retrogenes (FGF4L1 on chromosome 18 and FGF4L2 on chromosome 12) have been identified to cause dwarfism across many dog breeds. Some breeds are nearly homozygous for both retrogenes (e.g., Dachshunds) and others are homozygous for just one (e.g., Beagles and Scottish Terriers) (Bannasch et al., 2022)
• Clin feat: Brown et al. (2017): Relative to the unaffected dog, the mildly SD-affected NSDTR has cranial bowing of the radius. Radiographic changes in the more severely SD-affected NSDTR include moderate cranial bowing of the radius, physeal widening, and incongruity of the elbow joint with the shape of the semilunar notch of the ulna being elongated.
• Defect: yes
• Control: Bannash et al. (2022) recommend that Selectively breeding dogs with FGF4L1 and without FGF4L2 would likely lead to a reduction in the FGF4L2-related risk of intervertebral disc herniation while maintaining the reduction in leg length resulting from FGF4L1.

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 398298783 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Brown et al. (2017): an FGF4 retrogene insertion in chromosome CFA12 (12: g.33710178_33710179insMF040221.1; CanFam3) is "responsible for SD [skeletal dysplasia] in NSDTR [Nova Scotia Duck Tolling retrievers] . . . the insertion on CFA12 is 3,209 bp long (GenBank accession no. MF040221) and includes parental FGF4 cDNA (i.e., FGF4 exons spliced without introns) . . . . The insert also contains a…

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.

• 1975. Morphological studies of the canine intervertebral disc: the assignment of the Beagle to the achondroplastic classification. Res Vet Sci — PubMed:PMID1166121 — OMIA Phene_Article / Article
• 1952. A pathologic-anatomical study on disc degeneration in dog, with special reference to the so-called enchondrosis intervertebralis. Acta Orthop Scand Suppl — PubMed:PMID14923291 | DOI:10.3109/ort.1952.23.suppl-11.01 — OMIA Phene_Article / Article
• 1951. A pathologic-anatomical interpretation of disc degeneration in dogs. Acta Orthop Scand — PubMed:PMID14894198 | DOI:10.3109/17453675108991175 — OMIA Phene_Article / Article
• 2017. FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs. Proc Natl Acad Sci U S A — PubMed:PMID29073074 | DOI:10.1073/pnas.1709082114 — OMIA Phene_Article / Article
• 2019. The dog as a model for osteoarthritis: the FGF4 retrogene insertion may matter. J Orthop Res — PubMed:PMID31373395 | DOI:10.1002/jor.24432 — OMIA Phene_Article / Article
• 2022. The effects of FGF4 retrogenes on canine morphology. Genes (Basel) — PubMed:PMID35205370 | DOI:10.3390/genes13020325 — 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."