--- license: permission_granted topic_id: companion_species_health_marfan_syndrome_rabbit category: companion-species-health title: "Rabbit (Oryctolagus cuniculus) — Marfan syndrome (hereditary; OMIA-verified species predisposition)" lang: en source: "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." source_file: pdf-raw/species-health/rabbit_marfan_syndrome_5723.txt date_parsed: 2026-08-24 tokens_estimated: 180 verification: method: substring_match claims: 3 passed: 3 date: 2026-08-24 recovered: false path: companion-species-health/companion_species_health_marfan_syndrome_rabbit/01_companion_species_health_marfan_syndrome_rabbit.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Rabbit (Oryctolagus cuniculus) — Marfan syndrome (hereditary; OMIA-verified species predisposition)" url: "https://omia.org/OMIA000628/9986/" retrieved: "2026-08-24" ref: "OMIA species-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 (species-specific disorder entries)" needs_review: false
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."---
Rabbit (Oryctolagus cuniculus) — Marfan syndrome (hereditary; OMIA-verified species predisposition)
Source: 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.
Claims
Species: Rabbit (Oryctolagus cuniculus)Disorder: Marfan syndromeSummary: 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).
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 398298828 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
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.
- 2024. Genetic models of fibrillinopathies. Genetics — PubMed:PMID37972149 | DOI:10.1093/genetics/iyad189 — OMIA Phene_Article / Article
- 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
- 2024. Marfan syndrome: insights from animal models. Front Genet — PubMed:PMID39834548 | DOI:10.3389/fgene.2024.1463318 — 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:154700 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:134797 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:604308 (type: trait) — OMIA Group_OMIM (via OMIA_ID)