Alteration of reproductive function but not prenatal sexual development after insertional disruption of the mouse estrogen receptor gene. Consistent with this proposed crucial role, no human estrogen receptor gene mutations are known, unlike the androgen receptor, where many loss of function mutations have been found. We have generated mutant mice lacking responsiveness to estradiol by disrupting the estrogen receptor gene by gene targeting. Both male and female animals survive to adulthood with normal gross external phenotypes.
Females have hypoplastic uteri and hyperemic ovaries with no detectable corpora lutea.
Prenatal male and female reproductive tract development can therefore occur in the absence of estradiol receptor-mediated responsiveness.