{"topic_id":"companion_breed_health_golden_retriever_omia2976_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_golden_retriever_omia2976_dog\ncategory: companion-breed-health\ntitle: \"Golden Retriever — Neuronal ceroid lipofuscinosis, 5 (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/golden_retriever_omia2976_2976.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 688\nverification:\n  method: substring_match\n  claims: 10\n  passed: 10\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_golden_retriever_omia2976_dog/01_companion_breed_health_golden_retriever_omia2976_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Golden Retriever — Neuronal ceroid lipofuscinosis, 5 (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001482/9615/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Golden Retriever — Neuronal ceroid lipofuscinosis, 5 (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Golden Retriever (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Summary: The neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules and early neuronal death. Affected Border collies present at 18-24 months of age. There is a genetic test available.`\n- `Clin feat: Dogs present at 18-24 months of age with progressive behavioral changes, hyperactivity, dementia, aggression, loss of coordination, ataxia, delayed postural responses, blindness, and slow pupillary light responses (Taylor et al., 1988, Melville et al., 2005). Blind affected dogs have normal retinal structure on fundic and light microscopic examination, but have severe ultrastructural lesions (Taylor et al., 1988). Changes observed by MRI include slightly dilated cerebral sulci and cerebellar fissures, and left ventricular enlargement (Koie et al., 2004).`\n- `Defect: yes`\n- `Pathology: There is widespread accumulation of autofluorescent storage granules in the cerebrum, cerebellum, and spinal cord. In the cerebellum there is Purkinje cell depletion, and those remaining contain eosinophilic, autofluorescent granules. Storage also occurs in the ganglion cells of the retina, peribronchial phagocytes, Kupffer cells, macrophages in the spleen, renal tubular epithelium, thyroid epithelial cells, enteric ganglia and submucosal plexus cells (Taylor et al., 1988).`\n- `Prevalence: The frequency of the c.619Cgt;T allele is estimated at 3.5% in the Border collie population of Australia (Melville et al., 2005). Mizukami et al. (2016) reported the frequency of the c.619Cgt;T allele as 0.035 in 500 Border collies in Japan. Villani et al. (2019) reported the c.619Cgt;T variant to be homozygous in an affected mixed-breed dog of unknown parentage. They also reported a 87kb haplotype including the variant that is shared by this affected dog and the breeds in which this variant has been previously reported. Villani et al. (2019) concluded that the NCL in all of these dogs stems from the same founding mutation event that may have predated the establishment of the modern dog breeds. If so, the CLN5 nonsence allele is probably segregating in other, as yet unidentified, breeds. Thus, dogs exhibiting similar NCL-like signs should be screened for this CLN5 nonsense allele regardless of breed.`\n- `Control: Relatives of affected dogs should be tested. Avoid breeding affected dogs. If a carrier dog is bred with a dog that is DNA tested to not have the disease causing mutation, then all offspring need to be DNA tested to reduce the risk of future carrier by carrier matings.`\n- `Gen test: A test is available.`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 485498 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Sequencing of the strong comparative positional candidate gene CLN5 (see Mapping section above) revealed to Melville et al. (2005) that the causative mutation in Border Collies is \"a nonsense mutation (Q206X) within exon 4\" which \"should result in a protein product of a size similar to that of some mutations identified in human CLN5 and therefore the Border collie may make a good model for human N…\n\n## Evidence (references)\nDerived 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.\n- 1991. Clinical Features of Ceroid Lipofuscinosis in Border Collie  Dogs. Aust Vet J — PubMed:PMID2069541 | DOI:10.1111/j.1751-0813.1991.tb03156.x — OMIA Phene_Article / Article\n- 1992. Ceroid Lipofuscinosis in the Border Collie Dog - Retinal Lesions in an Animal Model of Juvenile Batten Disease. American Journal of Medical Genetics — PubMed:PMID1319117 | DOI:10.1002/ajmg.1320420438 — OMIA Phene_Article / Article\n- 1999. Computed tomographic findings of ceroid lipofuscinosis in a dog. J Am Anim Hosp Assoc — PubMed:PMID10493420 | DOI:10.5326/15473317-35-5-430 — OMIA Phene_Article / Article\n- 2004. Magnetic resonance imaging of neuronal ceroid lipofuscinosis in a border collie. J Vet Med Sci — PubMed:PMID15585966 | DOI:10.1292/jvms.66.1453 — OMIA Phene_Article / Article\n- 2005. A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics — PubMed:PMID16033706 | DOI:10.1016/j.ygeno.2005.06.005 — OMIA Phene_Article / Article\n- 2002. Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. Mol Biol Cell — PubMed:PMID12134079 | DOI:10.1091/mbc.E02-01-0031 — OMIA Phene_Article / Article\n- 1988. Ceroid-lipofuscinosis in border collie dogs. Acta Neuropathol — PubMed:PMID3376765 | DOI:10.1007/BF00686209 — OMIA Phene_Article / Article\n- 2011. Novel rapid genotyping assays for neuronal ceroid lipofuscinosis in Border Collie dogs and high frequency of the mutant allele in Japan. J Vet Diagn Invest — PubMed:PMID22362793 | DOI:10.1177/1040638711425590 — OMIA Phene_Article / Article\n- 2013. Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta — PubMed:PMID23338040 | DOI:10.1016/j.bbadis.2013.01.009 — OMIA Phene_Article / Article\n- 2012. Neuronal ceroid lipofuscinosis in Border Collie dogs in Japan: clinical and molecular epidemiological study (2000-2011). ScientificWorldJournal — PubMed:PMID22919312 | DOI:10.1100/2012/383174 — OMIA Phene_Article / Article\n- 2015. Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. Mol Genet Metab — PubMed:PMID25934231 | DOI:10.1016/j.ymgme.2015.04.001 — OMIA Phene_Article / Article\n- 2016. Australian Cattle dogs with neuronal ceroid lipofuscinosis are homozygous for a CLN5 nonsense mutation previously identified in Border Collies. J Vet Intern Med — PubMed:PMID27203721 | DOI:10.1111/jvim.13971 — OMIA Phene_Article / Article\n- (10 additional references in OMIA)\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:256731 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:608102 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Golden Retriever — Neuronal ceroid lipofuscinosis, 5 (hereditary; OMIA-verified breed predisposition) (retrieved 2026-08-22)"],"source":{"authority":"companion-breed-health","title":"Golden Retriever — Neuronal ceroid lipofuscinosis, 5 (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/2069541/","retrieved":"2026-08-22","ref":"PMID 2069541","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":1096,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}