In other species: horse , pig , Western roe deer , taurine cattle , sheep

Categories: Reproductive system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 400044 (trait) , 480000 (gene)

Links to MONDO diseases:

• MONDO:0020712: 46,XY sex reversal 1

Mendelian trait/disorder: yes

Mode of inheritance: Y-linked

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

Cross-species summary: This is type of XY difference of sexual development (XY DSD) due to variation in the SRY gene. In humans called 46,XY sex reversal 1. Renamed in OMIA from "Ovotesticular DSD (Disorder of Sexual evelopment)" [29/09/2023]. Previously this phene ID was named in OMIA 'Sex reversal: XY female, SRY-negative'

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)

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: