{"topic_id":"companion_breed_health_springer_spaniel_shaking_pup_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_springer_spaniel_shaking_pup_dog\ncategory: companion-breed-health\ntitle: \"Springer Spaniel — Shaking pup (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/springer_spaniel_shaking_pup_1595.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 421\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_springer_spaniel_shaking_pup_dog/01_companion_breed_health_springer_spaniel_shaking_pup_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: \"Springer Spaniel — Shaking pup (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000770/9615/\"\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# Springer Spaniel — Shaking pup (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: Springer Spaniel (Dog)`\n- `Disorder: Shaking pup`\n- `Mode of inheritance: X-linked recessive`\n- `Clin feat: Affected Springer Spaniel dogs may be smaller than littermates, and often present with difficulty standing, ataxia, and generalised tremors that typically appear at 10-12 days of age (Griffiths et al., 1981). Death often occurs at 3-4 months of age (Griffiths et al., 1981; Nadon et al., 1990). IT thanks DVM student Judith Browne, who provided the basis of this contribution in May 2023.brGutierrez-Quintana et al. (2026): The most severely affected [English Cocker Spaniel] male pup displayed pronounced generalized tremors, progressive motor dysfunction, and markedly impaired growth.`\n- `Defect: yes`\n- `Pathology: This disease is characterised by hypomyelination and reduced numbers of mature oligodendrocytes in the central nervous system (CNS) only, with abnormalities most pronounced in the cerebrum and optic nerve (Griffiths et al., 1981; Duncan et al., 1983). Histological features include shortened internodes, reduced thickness or absence of myelin sheaths of CNS axons, and expansion of the perinuclear sheaths and rough endoplasmic reticulum (RER) of oligodendrocytes (Griffiths et al., 1981; Duncan et al.,1983). Due to the X-linked mode of inheritance this disease affects males predominately. Due to X-inactivation in females, animals that are heterozygotes can present with tremors that disappear over time, and can present with myelin mosaicism in the CNS (Duncan et al., 1987). IT thanks DVM student Judith Browne, who provided the basis of this contribution in May 2023.`\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: PLP (Entrez Gene ID 4773602) — OMIA Phene_Gene / GeneSynonym\n- OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous disorder in humans, mice and rats), Nadon et al. (1990) reported the causative mutation as \"a point mutation at position 219 of the coding sequence [of the <em>PLP </em>gene; now called <em>PLP1</em>] that results in a histidine to proline change in the protein\". According to the current variant nomenclatur…\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- 1981. Shaking pups: a disorder of central myelination in the Spaniel dog. Part 1. Clinical, genetic and light-microscopical observations. J Neurol Sci — PubMed:PMID7196438 | DOI:10.1016/0022-510x(81)90154-4 — OMIA Phene_Article / Article\n- 1990. A point mutation in the proteolipid protein gene of the shaking pup interrupts oligodendrocyte development. Development — PubMed:PMID1723945 | DOI:10.1242/dev.110.2.529 — OMIA Phene_Article / Article\n- 1995. A suspected case of idiopathic generalised tremor (shaker  disease) in a shih tzu. Veterinary Record — PubMed:PMID7676584 — OMIA Phene_Article / Article\n- 1996. Molecular analysis of glial cell development in the canine shaking pup mutant. Developmental Neuroscience — PubMed:PMID8894446 — OMIA Phene_Article / Article\n- 1998. Myelin mosaicism and brain plasticity in heterozygous females of a canine X-linked trait. Annals of Neurology — PubMed:PMID9818933 | DOI:10.1002/ana.410440511 — OMIA Phene_Article / Article\n- 2004. A case of shaker dog disease in a miniature dachshund. J Vet Med Sci — PubMed:PMID15472486 — OMIA Phene_Article / Article\n- 1997. Intracellular transport of the DM-20 bearing shaking pup (shp) mutation and its possible phenotypic consequences. J Neurosci Res — PubMed:PMID9418971 | DOI:10.1002/(SICI)1097-4547(19971201)50:5<844::AID-JNR20>3.0.CO;2-# — OMIA Phene_Article / Article\n- 1987. Disproportional expression of proteolipid protein and DM-20 in the X-linked, dysmyelinating shaking pup mutant. J Neurochem — PubMed:PMID2445922 | DOI:10.1111/j.1471-4159.1987.tb02454.x — OMIA Phene_Article / Article\n- 1987. Myelin mosaicism in female heterozygotes of the canine shaking pup and myelin-deficient rat mutants. Brain Res — PubMed:PMID3828784 | DOI:10.1016/0006-8993(87)91062-6 — OMIA Phene_Article / Article\n- 1986. Myelin proteins in the CNS of 'shaking pups'. Brain Res — PubMed:PMID3708384 — OMIA Phene_Article / Article\n- 1983. 'Shaking pups': a disorder of central myelination in the spaniel dog. IV. Freeze-fracture electron microscopic studies of axons, oligodendrocytes and astrocytes in the spinal cord white matter. Neuropathol Appl Neurobiol — PubMed:PMID6646344 | DOI:10.1111/j.1365-2990.1983.tb00122.x — OMIA Phene_Article / Article\n- 1983. 'Shaking pups': a disorder of central myelination in the spaniel dog. III. Quantitative aspects of glia and myelin in the spinal cord and optic nerve. Neuropathol Appl Neurobiol — PubMed:PMID6646343 | DOI:10.1111/j.1365-2990.1983.tb00121.x — OMIA Phene_Article / Article\n- (3 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:312080 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:300401 (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 — Springer Spaniel — Shaking pup (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Springer Spaniel — Shaking pup (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/7196438/","retrieved":"","ref":"PMID 7196438","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":1241,"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."}