--- license: permission_granted topic_id: companion_breed_health_nova_scotia_duck_tolling_retriever_omia3941_dog category: companion-breed-health title: "Nova Scotia Duck Tolling Retriever — Degenerative encephalopathy, RB1CC1-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_omia3941_3941.txt date_parsed: 2026-08-02 tokens_estimated: 264 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_nova_scotia_duck_tolling_retriever_omia3941_dog/01_companion_breed_health_nova_scotia_duck_tolling_retriever_omia3941_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 — Degenerative encephalopathy, RB1CC1-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002055/9615/" 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 — Degenerative encephalopathy, RB1CC1-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 recessiveClin feat: As summarised by Barker et al. (2016): Clinical signs of neurological dysfunction began between 2 months and 5 years of age and were progressive in nature. They were characterized by episodes of marked movements during sleep, increased anxiety, noise phobia, and gait abnormalities. Magnetic resonance imaging documented symmetrical, progressively increasing, T2‐weighted image intensity, predominantly within the caudate nuclei, consistent with necrosis secondary to gray matter degeneration. Abnormalities were not detected on clinicopathological analysis of blood and cerebrospinal fluid, infectious disease screening or urine metabolite screening in most cases.Defect: yesPathology: Barker et al. (2016): Postmortem examination of brain tissue identified symmetrical malacia of the caudate nuclei and axonal dystrophy within the brainstem and spinal cord.
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 398298986 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Guo et al. (2025): "Whole genome sequences (WGSs) from the DNA of affected and unaffected Nova Scotia Duck Tolling Retrievers were aligned to the Dog10K_Boxer_Tasha reference genome assembly and to the WGSs of 334 additional control dogs generated by this laboratory. ... A missense C>T variant [omia.variant:1780] was identified in RB1CC1 exon 22 chromosome 29:4891014 that was uniquely homozygou…
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.
- 2016. Degenerative encephalopathy in Nova Scotia Duck Tolling Retrievers presenting with a rapid eye movement sleep behavior disorder. J Vet Intern Med — PubMed:PMID27717189 | DOI:10.1111/jvim.14575 — OMIA Phene_Article / Article
- 2025. An RB1CC1 missense variant in Nova Scotia Duck Tolling Retrievers with degenerative encephalopathy. Genes (Basel) — PubMed:PMID40149422 | DOI:10.3390/genes16030269 — 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:606837 (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."