OMIA:001230-9823 : XY sex reversal, SRY-related in Sus scrofa (pig)

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

Categories: Reproductive system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 400044 (trait) , 480000 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2021

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: Kurtz et al. (2021) "successfully generated a knockout of the porcine SRY gene by microinjection of two CRISPR-Cas ribonucleoproteins, targeting the centrally located "high mobility group" (HMG), followed by a frameshift mutation of the downstream SRY sequence. This resulted in the development of genetically male (XY) pigs with complete external and internal female genitalia, which, however, were significantly smaller than in 9-mo-old age-matched control females. Quantitative digital PCR analysis revealed a duplication of the SRY locus in Landrace pigs similar to the known palindromic duplication in Duroc breeds. Our study demonstrates the central role of the HMG domain in the SRY gene in male porcine sex determination." These animals are considered 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
SRY sex determining region Y Sus scrofa Y NC_010462.3 (40485700..40484990) SRY Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001230-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2021 Kurtz, S., Lucas-Hahn, A., Schlegelberger, B., Göhring, G., Niemann, H., Mettenleiter, T.C., Petersen, B. :
Knockout of the HMG domain of the porcine SRY gene causes sex reversal in gene-edited pigs. Proc Natl Acad Sci U S A 118:e2008743118, 2021. Pubmed reference: 33443157. DOI: 10.1073/pnas.2008743118.

Edit History

  • Created by Imke Tammen2 on 01 Oct 2023
  • Changed by Imke Tammen2 on 18 Dec 2023