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
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)
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)
Reference
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