Oculodentodigital dysplasia (ODDD) causes widespread abnormalities in the teeth, digits and eyes, as well as variable dysfunctional effects in the heart and brain. It is caused by a genetic mutation in connexin43 (Cx43), a gap junction protein widely expressed in the female reproductive system. Since the influence of Cx43 on fertility is unknown, Dan Tong and colleagues examined mice with a dominant loss-of-function mutation in Cx43 and characteristics of human ODDD. Compared with wild-type mice, mutant mice have similar numbers of germ cells but fewer pre-ovulatory follicles and no ovulation response to hormonal stimulation. Mutants also have less mating success and smaller litters. These data demonstrate a role for Cx43 in fertility and prompt further investigation of reproductive issues in ODDD patients.
