OMIA:001709-9986 : Difference of sexual development, DMRT1-related in Oryctolagus cuniculus (rabbit)

In other species: Japanese medaka , tongue sole

Categories: Reproductive system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 602424 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2023

Cross-species summary: This is a type of XY difference of sexual development (XY DSD) due to variants in the DMRT1 gene. Renamed from 'XY Ovotesticular DSD (Disorder of Sexual Development), DMRT1-related' [29/09/2023]

Species-specific description: 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).

Genetic engineering: Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
DMRT1 doublesex and mab-3 related transcription factor 1 Oryctolagus cuniculus 1 NC_067374.1 (67877949..67760127) DMRT1 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001709-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Dujardin, É., Pannetier, M., Pailhoux, É. :
[Dmrt1 is a major gene for testicular determination and for male and female fertility in rabbits]. Med Sci (Paris) 40:238-241, 2024. Pubmed reference: 38520096. DOI: 10.1051/medsci/2024004.
2023 Dujardin, E., Marjolaine, A., Dewaele, A., Mandon-Pépin, B., Poulat, F., Frambourg, A., Thépot, D., Jouneau, L., Jolivet, G., Pailhoux, E., Pannetier, M. :
DMRT1 is a testis-determining gene in rabbits and is also essential for female fertility. Elife 12, 2023. Pubmed reference: 37847154. DOI: 10.7554/eLife.89284.

Edit History

  • Created by Imke Tammen2 on 21 Oct 2023
  • Changed by Imke Tammen2 on 18 Dec 2023