{"topic_id":"companion_breed_health_weimaraner_omia2986_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_weimaraner_omia2986_dog\ncategory: companion-breed-health\ntitle: \"Weimaraner — Hypomyelination of the central nervous system (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/weimaraner_omia2986_2986.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 301\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_weimaraner_omia2986_dog/01_companion_breed_health_weimaraner_omia2986_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: \"Weimaraner — Hypomyelination of the central nervous system (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000526/9615/\"\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# Weimaraner — Hypomyelination of the central nervous system (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: Weimaraner (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Affected animals present with generalised tremors at about 2 to 3 weeks of age (Kornegay et al., 1987; Pemberton et al., 2014). Clinical signs gradually resolve in most dogs by 3 to 4 months of age (Kornegay et al., 1987; Pemberton et al., 2014), though some dogs retained a persistent fine tremor of the hind limbs (Pemberton et al., 2014). Pemberton et al. (2014) suggest that hyppomyelination previously described in Chow Chow dogs (Vandevelde and Braund, 1981; Vandevelde et al., 1978) is identical to the disease in Weimaraner dogs.`\n- `Defect: yes`\n- `Pathology: Kornegay et al., (1987) Many axons in the brain and spinal cord were either thinly myelinated or nonmyelinated in the affected dogs relative to the controls, while the peripheral nervous system was normally myelinated. The degree of hypomyelination seemed particularly severe at the periphery of the lateral and ventral funiculi of the spinal cord. In all areas of white matter evaluated, astrocytes subjectively outnumbered oligodendrocytes in the [affeted] Weimaraners ...`\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 388244185 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: After sequencing the most obvious candidate gene in the candidate region (see Mapping section) and discovering no mutations, Pemberton et al. (2014) sequenced all 199 exons of the remaining 16 genes in that region, yielding 54 variants, only one of which had the potential to be deleterious. This variant turned out to be the causal mutation: \"a deletion of a single A nucleotide within exon 9 of the…\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- 2010. Hypomyelination in three Weimaraner dogs. J Small Anim Pract — PubMed:PMID20973788 | DOI:10.1111/j.1748-5827.2010.00997.x — OMIA Phene_Article / Article\n- 1987. Hypomyelination in Weimaraner dogs. Acta Neuropathol — PubMed:PMID3577694 — OMIA Phene_Article / Article\n- 1988. Weakness associated with spinal subpial myelopathy in a Weimaraner puppy. Journal of Small Animal Practice — OMIA Phene_Article / Article\n- 2014. A mutation in the canine gene encoding folliculin-interacting protein 2 (FNIP2) associated with a unique disruption in spinal cord myelination. Glia — PubMed:PMID24272703 | DOI:10.1002/glia.22582 — OMIA Phene_Article / Article\n- 1978. Mode of cerebellar functioning in contact placing in kittens [proceedings]. J Physiol — PubMed:PMID731520 — OMIA Phene_Article / Article\n- 1978. Dysmyelination of the central nervous system in the Chow-Chow dog. Acta Neuropathol — PubMed:PMID676669 | DOI:10.1007/BF00690359 — OMIA Phene_Article / Article\n- 1981. Dysmyelination in Chow Chow dogs: further studies in older dogs. Acta Neuropathol — PubMed:PMID7315204 | DOI:10.1007/BF00699232 — OMIA Phene_Article / Article\n- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article\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:612768 (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 — Weimaraner — Hypomyelination of the central nervous system (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Weimaraner — Hypomyelination of the central nervous system (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/20973788/","retrieved":"","ref":"PMID 20973788","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":960,"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."}