--- license: permission_granted topic_id: companion_breed_health_german_spitz_omia4067_dog category: companion-breed-health title: "German Spitz — Oculocutaneous albinism, OCA2-related (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/german_spitz_omia4067_4067.txt date_parsed: 2026-08-02 tokens_estimated: 165 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_german_spitz_omia4067_dog/01_companion_breed_health_german_spitz_omia4067_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: "German Spitz — Oculocutaneous albinism, OCA2-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002130/9615/" 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
German Spitz — Oculocutaneous albinism, OCA2-related (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: German Spitz (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin 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.Defect: yes
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 388253619 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- 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…
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.
- 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
- 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID34751460 | DOI:10.1111/age.13154 — OMIA Phene_Article / Article
- 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID35510419 | DOI:10.1111/age.13185 — OMIA Phene_Article / Article
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:203200 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:611409 (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."