{"topic_id":"companion_breed_health_german_spitz_omia4067_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_german_spitz_omia4067_dog\ncategory: companion-breed-health\ntitle: \"German Spitz — Oculocutaneous albinism, OCA2-related (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/german_spitz_omia4067_4067.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 165\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_german_spitz_omia4067_dog/01_companion_breed_health_german_spitz_omia4067_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: \"German Spitz — Oculocutaneous albinism, OCA2-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002130/9615/\"\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# German Spitz — Oculocutaneous albinism, OCA2-related (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: German Spitz (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: The three affected German Spitz puppies reported in Caduff et al. (2017) showed a light brown (hazel) coat colour and blue eyes. Pigmentation of the coat and eyes became slightly darker with age. The owner reported that the affected puppies used to squint in bright sunlight (photophobia) and had difficulties to perceive hand signals in bright sunlight. Photophobia and mild to moderate visual deficits are also common in human patients with oculocutaneous albinism type II.`\n- `Defect: yes`\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 388253619 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: The OCA2 gene is located in the critical interval on chromosome 3. Whole genome sequencing of one of the affected dogs revealed a splice site variant in the OCA2 gene that co-segregated with the phenotype in the German Spitz family. The variant did not occur in 181 normally pigmented dogs from various breeds. As OCA2 loss of function variants have been shown to cause oculocutaneous albinism in man…\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- 2017. OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. PLoS One — PubMed:PMID28973042 | DOI:10.1371/journal.pone.0185944 — OMIA Phene_Article / Article\n- 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID34751460 | DOI:10.1111/age.13154 — OMIA Phene_Article / Article\n- 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID35510419 | DOI:10.1111/age.13185 — 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:203200 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:611409 (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 — German Spitz — Oculocutaneous albinism, OCA2-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"German Spitz — Oculocutaneous albinism, OCA2-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/28973042/","retrieved":"","ref":"PMID 28973042","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":700,"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."}