Nova Scotia Duck Tolling Retriever — Palatoschisis (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_nova_scotia_duck_tolling_retriever_palatoschisis_dog category: companion-breed-health title: "Nova Scotia Duck Tolling Retriever — Palatoschisis (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_palatoschisis_3707.txt date_parsed: 2026-08-02 tokens_estimated: 399 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_palatoschisis_dog/01_companion_breed_health_nova_scotia_duck_tolling_retriever_palatoschisis_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 — Palatoschisis (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001919/9615/" 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 — Palatoschisis (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: Palatoschisis
• Mode of inheritance: Autosomal recessive
• Summary: See 'OMIA:001140-9615 : Cleft lip with or without cleft palate, ADAMTS20-related' for a different form of clef palate in Nova Scotia Duck Tolling retrievers.
• Clin feat: As reported by Wolf et al. (2014), this syndrome is best summarised as relative mandibular brachygnathia and cleft palate. As detailed by the same authors, in the syndrome specified as CP1 clefts were characterized by abnormal or missing palatine fissures, missing or small palatine processes of the maxilla, and small, missing, or abnormally shaped palatine bones . . . The nasal septum was absent or poorly developed. . . .variation from the normal angulation of the condylar process [of mandibles] was observed. These same authors also reported that CP1 NSDTRs [Nova Scotia Duck Tolling Retrievers] had relatively shorter mandibles by an average of 5.46 mm when compared to the normal NSDTRs.
• Defect: yes
• Prevalence: As reported by Wolf et al. (2014), Within the NSDTR breed, 96 dogs were genotyped and 80 NSDTRs did not carry the insertion, while the remaining 16 NSDTRs were heterozygous for the insertion. To determine if the insertion was shared among other breeds, 35 affected dogs from 20 other breeds and 284 unaffected dogs from 69 breeds were genotyped. No carriers were identified. This is consistent with a fully penetrant autosomal recessive causative mutation that is private to the NSDTR breed.

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 388249276 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Among the 21 positional candidate genes in the region to which this disorder was mapped (see Mapping section), Wolf et al. (2014) identified two (DLX5 and DLX6) as functional candidates (being transcription factors involved in craniofacial development; and containing causal mutations in mice). Sanger sequencing of the coding regions and conserved introns of these two genes in 1 affected and 1 unaf…

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.

• 2014. A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence. PLoS Genet — PubMed:PMID24699068 | DOI:10.1371/journal.pgen.1004257 — OMIA Phene_Article / Article
• 2017. Morphological evaluation of clefts of the lip, palate, or both in dogs. Am J Vet Res — PubMed:PMID28738009 | DOI:10.2460/ajvr.78.8.926 — OMIA Phene_Article / Article
• 2022. Management of dental and oral developmental conditions in dogs and cats. Vet Clin North Am Small Anim Pract — PubMed:PMID34838248 | DOI:10.1016/j.cvsm.2021.09.002 — OMIA Phene_Article / Article
• 2017. A numerical classification system for cleft lip and palate in the dog. J Small Anim Pract — PubMed:PMID28887848 | DOI:10.1111/jsap.12730 — 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:261800 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:600030 (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."