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OMIA:002632-9541 : Asthenoteratozoospermia, SSX1-related in Macaca fascicularis (crab-eating macaque)

In other species: tree shrews

Categories: Reproductive system phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 312820 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: Liu et al. (2023) "used a non-human primate model and tree shrews ... to knock down (KD) Ssx1 expression in the testes. Consistent with the phenotype observed in humans, both Ssx1-KD models exhibited a reduced sperm motility and abnormal sperm morphology."

This phene includes references to studies involving gene edited or genetically modified organisms (GMO).

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002632-9541: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2023 Liu, C., Si, W., Tu, C., Tian, S., He, X., Wang, S., Yang, X., Yao, C., Li, C., Kherraf, Z.E., Ye, M., Zhou, Z., Ma, Y., Gao, Y., Li, Y., Liu, Q., Tang, S., Wang, J., Saiyin, H., Zhao, L., Yang, L., Meng, L., Chen, B., Tang, D., Zhou, Y., Wu, H., Lv, M., Tan, C., Lin, G., Kong, Q., Shi, H., Su, Z., Li, Z., Yao, Y.G., Jin, L., Zheng, P., Ray, P.F., Tan, Y.Q., Cao, Y., Zhang, F. :
Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models. Am J Hum Genet , 2023. Pubmed reference: 36796361. DOI: 10.1016/j.ajhg.2023.01.016.

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  • Created by Imke Tammen2 on 18 Feb 2023