Rabbit (Oryctolagus cuniculus) — Cataract, GJA8-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: Cataract, GJA8-related
Summary: Yuan et al. (2016) generated GJA8-deficient rabbits using CRISPR/Cas9 gene editing to develop a rabbit model for congenital cataracts. Rabbits with impaired GJA8 function presented with microphthalmia, small lens size and cataracts. (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 389124555 (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.

2016. CRISPR/Cas9-mediated GJA8 knockout in rabbits recapitulates human congenital cataracts. Sci Rep — PubMed:PMID26912477 | DOI:10.1038/srep22024 — OMIA Phene_Article / Article
2023. Congenital cataracts affect the retinal visual cycle and mitochondrial function: A multi-omics study of GJA8 knockout rabbits. J Proteomics — PubMed:PMID37467890 | DOI:10.1016/j.jprot.2023.104972 — 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:116200 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
OMIM:600897 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

Rabbit (Oryctolagus cuniculus) — Cataract, GJA8-related (hereditary; OMIA-verified species predisposition)