Rabbit (Oryctolagus cuniculus) — Difference of sexual development, DMRT1-related (hereditary; OMIA-verified species predisposition)

Rabbit (Oryctolagus cuniculus) — Difference of sexual development, DMRT1-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: Difference of sexual development, DMRT1-related
• Summary: Dujardin et al. (2023) "abolished DMRT1 expression by CRISPR/Cas9 in ... the rabbit. First, we observed that gonads from XY DMRT1−/− rabbit fetuses differentiated like ovaries, highlighting that DMRT1 is involved in testis determination. ... Second, we highlighted another function of DMRT1 in the germline since XX and XY DMRT1−/− ovaries did not undergo meiosis and folliculogenesis. XX DMRT1−/− adult females were sterile, showing that DMRT1 is also crucial for female fertility." 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 389106167 (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. DMRT1 is a testis-determining gene in rabbits and is also essential for female fertility. Elife — PubMed:PMID37847154 | DOI:10.7554/eLife.89284 — OMIA Phene_Article / Article
• 2024. [Dmrt1 is a major gene for testicular determination and for male and female fertility in rabbits]. Med Sci (Paris) — PubMed:PMID38520096 | DOI:10.1051/medsci/2024004 — OMIA Phene_Article / Article
• 2025. DMRT1 haploinsufficiency leads to secondary infertility in XY male rabbits. Biol Reprod — PubMed:PMID40169148 | DOI:10.1093/biolre/ioaf064 — 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:602424 (type: gene) — OMIA Group_OMIM (via OMIA_ID)