Rabbit (Oryctolagus cuniculus) — Hypoxanthine guanine phosphoribosyltransferase deficiency (hereditary; OMIA-verified species predisposition)

Rabbit (Oryctolagus cuniculus) — Hypoxanthine guanine phosphoribosyltransferase deficiency (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: Hypoxanthine guanine phosphoribosyltransferase deficiency
• Summary: 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 398298898 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Yin et al. (2024) created a rabbit model for Lesch-Nyhan syndrome using CRISPR/Cas9 HPRT knock out.&nbsp;

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. Establishment and characterization of Lesch-Nyhan syndrome rabbit model. Yi Chuan — PubMed:PMID38763775 | DOI:10.16288/j.yczz.24-012 — 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:300322 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:308000 (type: gene) — OMIA Group_OMIM (via OMIA_ID)