{"topic_id":"companion_breed_health_new_zealand_white_rabbit_omia5073_rabbit","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_new_zealand_white_rabbit_omia5073_rabbit\ncategory: companion-breed-health\ntitle: \"New Zealand White (Rabbit) — Amelogenesis imperfecta, FAM83H-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 2026-08-23 from local OMIA database dump.\"\nsource_file: pdf-raw/breed-health/new_zealand_white_rabbit_omia5073_5073.txt\ndate_parsed: 2026-08-23\ntokens_estimated: 250\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-23\nrecovered: false\npath: companion-breed-health/companion_breed_health_new_zealand_white_rabbit_omia5073_rabbit/01_companion_breed_health_new_zealand_white_rabbit_omia5073_rabbit.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: \"New Zealand White (Rabbit) — Amelogenesis imperfecta, FAM83H-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002600/9986/\"\n  retrieved: \"2026-08-23\"\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\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\n# New Zealand White (Rabbit) — Amelogenesis imperfecta, FAM83H-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: New Zealand White (Rabbit)`\n- `Disorder: `\n- `Summary: Zhang et al. (2022): Fam83h mutations cause human amelogenesis imperfecta (AI), an inherited disorder characterized by severe hardness defects in dental enamel. ... a large deletion of the Fam83h gene (900 bp) was generated via a dual sgRNA-directed CRISPR/Cas9 system in rabbits. This study involves genetically modified organisms (GMO).`\n- `Clin feat: Zhang et al. (2022): Abnormal tooth mineralization and loose dentine were found in homozygous Fam83h knockout (Fam83h-/-) rabbits compared with WT rabbits. In addition, reduced hair follicle counts in dorsal skin, hair cycling dysfunction and hair shaft differentiation deficiency were observed in Fam83h-/- rabbits. Moreover, X-rays and staining of bone sections showed abnormal bending of the ulna and radius and an ulnar articular surface with insufficient trabecular bone in Fam83h-/- rabbits.`\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 394534710 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\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- 2022. CRISPR/Cas9-mediated deletion of Fam83h induces defective tooth mineralization and hair development in rabbits. J Cell Mol Med — PubMed:PMID36300761 | DOI:10.1111/jcmm.17597 — 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:611927 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:130900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-breed-health — New Zealand White (Rabbit) — Amelogenesis imperfecta, FAM83H-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"New Zealand White (Rabbit) — Amelogenesis imperfecta, FAM83H-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/36300761/","retrieved":"","ref":"PMID 36300761","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":625,"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."}