{"topic_id":"companion_species_health_marfan_syndrome_rabbit","category":"companion-species-health","context":"---\nlicense: permission_granted\ntopic_id: companion_species_health_marfan_syndrome_rabbit\ncategory: companion-species-health\ntitle: \"Rabbit (Oryctolagus cuniculus) — Marfan syndrome (hereditary; OMIA-verified species predisposition)\"\nlang: en\nsource: \"OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump.\"\nsource_file: pdf-raw/species-health/rabbit_marfan_syndrome_5723.txt\ndate_parsed: 2026-08-24\ntokens_estimated: 180\nverification:\n  method: substring_match\n  claims: 3\n  passed: 3\n  date: 2026-08-24\nrecovered: false\npath: companion-species-health/companion_species_health_marfan_syndrome_rabbit/01_companion_species_health_marfan_syndrome_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: \"Rabbit (Oryctolagus cuniculus) — Marfan syndrome (hereditary; OMIA-verified species predisposition)\"\n  url: \"https://omia.org/OMIA000628/9986/\"\n  retrieved: \"2026-08-24\"\n  ref: \"OMIA species-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 (species-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# Rabbit (Oryctolagus cuniculus) — Marfan syndrome (hereditary; OMIA-verified species predisposition)\n\nSource: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to `source_file`; every claim below is a C1 byte-substring of it.\n\n## Claims\n\n- `Species: Rabbit (Oryctolagus cuniculus)`\n- `Disorder: Marfan syndrome`\n- `Summary: Chen et al. (2018) \"describe the generation of a rabbit MPL [Marfanoid-progeroid-lipodystrophy] model with C-terminal truncation of fibrillin-1 using a CRISPR/Cas9 system. FBN1 heterozygous (FBN1 Het) rabbits faithfully recapitulated the phenotypes of MFS [Marfan syndrome], including muscle wasting and impaired connective tissue, ocular syndrome and aortic dilation. Moreover, skin symptoms, lipodystrophy, growth retardation and dysglycemia were also seen in these FBN1 Het rabbits ... . \" This phene includes references to studies involving gene edited or genetically modified organisms (GMO).`\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 398298828 (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- 2024. Genetic models of fibrillinopathies. Genetics — PubMed:PMID37972149 | DOI:10.1093/genetics/iyad189 — OMIA Phene_Article / Article\n- 2018. Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit. Dis Model Mech — PubMed:PMID29666143 | DOI:10.1242/dmm.031542 — OMIA Phene_Article / Article\n- 2024. Marfan syndrome: insights from animal models. Front Genet — PubMed:PMID39834548 | DOI:10.3389/fgene.2024.1463318 — 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:154700 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:134797 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:604308 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-species-health — Rabbit (Oryctolagus cuniculus) — Marfan syndrome (hereditary; OMIA-verified species predisposition)"],"source":{"authority":"companion-species-health","title":"Rabbit (Oryctolagus cuniculus) — Marfan syndrome (hereditary; OMIA-verified species predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/37972149/","retrieved":"","ref":"PMID 37972149","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":609,"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."}