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The  SEPTIN12  gene has been associated with male infertility. Male  Septin12  +/−  chimera mice were infertile, supporting the prevailing view that  SEPTIN12  haploinsufficiency causes male infertility. In this study, we identified a heterozygous mutation on  SEPTIN12 , c.72C&amp;gt;A (p.Cys24Ter) in the male partner of a patient couple, who had a previous fertilization failure (FF) after intracytoplasmic sperm injection (ICSI) and became pregnant after ICSI together with artificial oocyte activation (AOA). To investigate the role of  SEPTIN12  in FF and oocyte activation, we constructed  Septin12  knockout mice. Surprisingly,  Septin12  −/−  male mice, but not  Septin12  +/−  male mice, are infertile, and have reduced sperm counts and abnormal sperm morphology. Importantly, AOA treatment enhances the 2-cell embryo rate of ICSI embryos injected with  Septin12   −/−   sperm, indicating that FF caused by male  Septin12  deficiency is overcome by AOA. Mechanistically, loss of PLCζ around the acrosome might be the reason for FF of  Septin12   −/−   sperm. Taken together, our data indicated that homozygous knockout of  Septin12 , but not  Septin12  haploinsufficiency, leads to male infertility and FF.

Homozygous Loss of Septin12, but not its Haploinsufficiency, Leads to Male Infertility and Fertilization Failure