OMIA:001230-9986 : Ovotesticular DSD (Disorder of Sexual Development) in Oryctolagus cuniculus

In other species: horse , cattle , wood lemming , domestic cat , Japanese medaka , dog , pig , Western roe deer

Categories: Reproductive system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 400044 (trait) , 300018 (trait) , 612965 (trait) , 154230 (trait) , 613080 (trait) , 613762 (trait) , 233420 (trait) , 614279 (trait) , 480000 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Y-linked

Considered a defect: yes

Key variant known: no

Cross-species summary: Previously known as Sex reversal: XY female, SRY-negative. The present name (ovotesticular DSD) corresponds to the recommendations on nomenclature for disorders of sexual development (DSD) proposed by Lee et al. (Pediatrics 2006;118;e488; DOI: 10.1542/peds.2006-0738).

Species-specific description: Song et al. (2017) "mutated Sp1-binding sites in the 5′ flanking region of the rabbit SRY gene using the CRISPR/Cas9 system. As expected, the [resultant] SRY-Sp1 knockout rabbits had female external and internal genitalia and exhibited normal female copulatory behaviors, but they were infertile, and the adults displayed reduced follicles." Thus, these animals are genetically-modified organisms (GMO)


2017 Song, Y., Liu, T., Wang, Y., Deng, J., Chen, M., Yuan, L., Lu, Y., Xu, Y., Yao, H., Li, Z., Lai, L. :
Mutation of the Sp1 binding site in the 5' flanking region of SRY causes sex reversal in rabbits. Oncotarget 8:38176-38183, 2017. Pubmed reference: 28445127 . DOI: 10.18632/oncotarget.16979.

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  • Created by Frank Nicholas on 11 Apr 2018