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Huntaway — Neuronal ceroid lipofuscinosis, 8 (hereditary; OMIA-verified breed predisposition)

companion_breed_health_huntaway_omia2977_dog

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--- license: permission_granted topic_id: companion_breed_health_huntaway_omia2977_dog category: companion-breed-health title: "Huntaway — Neuronal ceroid lipofuscinosis, 8 (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/huntaway_omia2977_2977.txt date_parsed: 2026-08-02 tokens_estimated: 347 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_huntaway_omia2977_dog/01_companion_breed_health_huntaway_omia2977_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: "Huntaway — Neuronal ceroid lipofuscinosis, 8 (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001506/9615/" 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

Huntaway — Neuronal ceroid lipofuscinosis, 8 (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: Huntaway (Dog)
  • Disorder:
  • Mode of inheritance: Autosomal recessive
  • Clin feat: Koppang (1992) and Guo et al. (2014) describe the disease in English Setter and Australian Shepherd dogs: From birth to 12-14 months of age, the dog presents as healthy. At 14-18 months, visual impairment and behavioural changes indicative of neurological degeneration, such as decreased responsiveness to voice commands and compulsive circling, develop. These symptoms worsen, leading to blindness, ataxia and eventual loss of motor function in the limbs. Seizures develop at 17-24 months, becoming more frequent and severe until death or euthanasia of the animal which usually occurs before the age of 27 months. IT thanks DVM student Steven Serb, who provided the basis of this contribution in May 2023.
  • Defect: yes
  • Pathology: Koppang (1992) and Guo et al. (2014) describe the disease in English Setter and Australian Shepherd dogs: Gross pathology as well as MRI examination of the brain identifies diffuse brain atrophy and ventriculomegaly, which progresses alongside clinical signs. Histopathology identifies the accumulation of autofluorescent lysosomal storage material in neural tissue, which is pathognomonic for NCL. IT thanks DVM student Steven Serb, who provided the basis of this contribution in May 2023.

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 488558 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
  • OMIA molecular-genetics note: In one of the early uses of the initial canine genome assembly, Katz et al. (2005) conducted megablast searches of the canine genome with all eight then-known human genes for ceroid lipofuscinosos. One of these (CLN8) was shown to be located on CFA37, near to the mapped location of this disorder (see Mapping section above). Sequencing of the canine CLN8 gene in affected English Setters revealed th…

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. Electroretinograms in English Setters with neuronal ceroid lipofuscinosis. Investigative Ophthalmology and Visual Science — OMIA Phene_Article / Article
  • 1990. Battens disease - Failure of allogeneic bone marrow transplantation to arrest disease progression in a canine model. Clin Genet — PubMed:PMID2350897 | DOI:10.1111/j.1399-0004.1990.tb04188.x — OMIA Phene_Article / Article
  • 1992. English Setter model and juvenile ceroid-lipofuscinosis in man. American Journal of Medical Genetics — PubMed:PMID1609842 | DOI:10.1002/ajmg.1320420434 — OMIA Phene_Article / Article
  • 1992. Retina in various animal models of neuronal ceroid-lipofuscinosis. Am J Med Genet — PubMed:PMID1609843 | DOI:10.1002/ajmg.1320420435 — OMIA Phene_Article / Article
  • 1994. Lysine methylation of mitochondrial ATP synthase subunit-c stored in tissues of dogs with hereditary ceroid lipofuscinosis. J Biol Chem — PubMed:PMID8144584 — OMIA Phene_Article / Article
  • 1994. Growth factor-induced neurite growth in primary neuronal cultures of dogs with neuronal ceroid lipofuscinosis. Int J Dev Neurosci — PubMed:PMID7942092 | DOI:10.1016/0736-5748(94)90040-x — OMIA Phene_Article / Article
  • 1995. Canine hereditary ceroid-lipofuscinosis: Evidence for a defect in the carnitine biosynthetic pathway. American Journal of Medical Genetics — PubMed:PMID7668343 | DOI:10.1002/ajmg.1320570231 — OMIA Phene_Article / Article
  • 1995. Biosynthesis and metabolism of 4-hydroxynonenal in canine ceroid-lipofuscinosis. American Journal of Medical Genetics — PubMed:PMID7668347 | DOI:10.1002/ajmg.1320570235 — OMIA Phene_Article / Article
  • 1995. Early detection of canine ceroid-lipofuscinosis (CCL): An ultrastructural study. American Journal of Medical Genetics — PubMed:PMID7668340 | DOI:10.1002/ajmg.1320570228 — OMIA Phene_Article / Article
  • 1998. Coding sequence and exon/intron organization of the canine CLN3 (Batten-disease) gene and its exclusion as the locus for ceroid-lipofuscinosis in English Setter dogs. Journal of Neuroscience Research — PubMed:PMID9590435 — OMIA Phene_Article / Article
  • 1998. Altered mitochondrial function in canine ceroid-lipofuscinosis. Neurochemical Research — PubMed:PMID9690741 — OMIA Phene_Article / Article
  • 1998. Genetic markers linked to neuronal ceroid lipofuscinosis in English Setter dogs. Animal Genetics — PubMed:PMID9800325 — OMIA Phene_Article / Article
  • (26 additional references in OMIA)

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:600143 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:607837 (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

Huntaway — Neuronal ceroid lipofuscinosis, 8 (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 2350897

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