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Skye Terrier — Chondrodysplasia, FGF4 retrogene-related (hereditary; OMIA-verified breed predisposition)

companion_breed_health_skye_terrier_omia4947_dog

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--- license: permission_granted topic_id: companion_breed_health_skye_terrier_omia4947_dog category: companion-breed-health title: "Skye Terrier — Chondrodysplasia, 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/skye_terrier_omia4947_4947.txt date_parsed: 2026-08-02 tokens_estimated: 302 verification: method: substring_match claims: 8 passed: 8 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_skye_terrier_omia4947_dog/01_companion_breed_health_skye_terrier_omia4947_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: "Skye Terrier — Chondrodysplasia, FGF4 retrogene-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002542/9615/" 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

Skye Terrier — Chondrodysplasia, 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: Skye Terrier (Dog)
  • Disorder:
  • Mode of inheritance: Autosomal
  • Summary: Two FGF4 retrogenes (FGF4L1 on chromosome 18 [omia.variant:694] and FGF4L2 on chromosome 12 [omia.variant:853]) 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: Even though chondrodysplasia is normally regarded as a defect, this canine mutation is not classified as a defect because, as noted by Parker et al. (2009), it is a a short-legged phenotype that defines at least 19 dog breeds including dachshund, corgi, and basset hound.
  • Defect: no
  • Prevalence: Parker et al. (2009) reported that the CFA18 FGF4 retrogene insertion is fixed (i.e. freq = 1) in 15 chondrodysplastic breeds.
  • 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 398298785 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
  • OMIA molecular-genetics note: Sequencing within the candidate region (see Mapping section) by Parker et al. (2009) revealed the likely causal mutation to be a 5kb insertion containing a FGF4 retrogene, i.e. a processed pseudogene of FGF4: "Neither the introns nor the upstream promoter sequences of the gene were present in the insert, however all exons were present, with no alterations in the coding sequence, as well as the 3’ …

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
  • 2009. An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. Science — PubMed:PMID19608863 | DOI:10.1126/science.1173275 — OMIA Phene_Article / Article
  • 2008. SNPS in the promoter regions of the canine RMRP and SHOX genes are not associated with canine chondrodysplasia. Anim Biotechnol — PubMed:PMID18228171 | DOI:10.1080/10495390701638328 — OMIA Phene_Article / Article
  • 2010. Localization of canine brachycephaly using an across breed mapping approach. PLoS One — PubMed:PMID20224736 | DOI:10.1371/journal.pone.0009632 — OMIA Phene_Article / Article
  • 2009. Genetics. More than just a copy. Science — PubMed:PMID19696341 | DOI:10.1126/science.1178487 — 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
  • 2020. Multiple FGF4 retrocopies recently derived within canids. Genes (Basel) — PubMed:PMID32717834 | DOI:10.3390/genes11080839 — 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
  • 2022. Breed-typical front limb angular deformity is associated with clinical findings in three chondrodysplastic dog breeds. Front Vet Sci — PubMed:PMID36733429 | DOI:10.3389/fvets.2022.1099903 — OMIA Phene_Article / Article
  • 2024. Case report: FGF4L1 retrogene insertion is lacking in the tall dachshund phenotype. Front Vet Sci — PubMed:PMID39830166 | DOI:10.3389/fvets.2024.1522745 — 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:164980 (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."

Sources

Skye Terrier — Chondrodysplasia, FGF4 retrogene-related (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 1166121

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