Rabbit (Oryctolagus cuniculus) — Microcephaly, YIPF5-related (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: Microcephaly, YIPF5-relatedSummary: Liu et al. (2023) "constructed a rabbit PMCPH [primary microcephaly] model harboring YIPF5 (p.W218R) mutation using SpRY-ABEmax mediated base substitution, which precisely recapitulated the typical symptoms of human PMCPH." This study involves 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 389123594 (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.
- 2023. YIPF5 (p.W218R) mutation induced primary microcephaly in rabbits. Neurobiol Dis — PubMed:PMID37142085 | DOI:10.1016/j.nbd.2023.106135 — 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:611483 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:619278 (type: trait) — OMIA Group_OMIM (via OMIA_ID)