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)