Generation of transgenic mice that lack functional copies of one or several
endogenous genes, or that overexpress an exogenous gene, as well as the ph
enotypic characterization of spontaneous mutations, has recently allowed ph
ysiologists to investigate the functional role of these genes in vivo. In t
his review, we describe mutations that specifically affect fertility in fem
ale mice. some mutations affect sexual differentiation and organogenesis of
the ovaries, basal and terminal follicular growth and atresia, and/or ovul
ation. Other mutations indirectly alter female fertility by interacting wit
h metabolism. Among all the mutations that have been shown to alter female
fertility, some;of them were expected (FSH beta, estradiol receptor), while
others were serendipitous (Nhlh2, CSF1). Finally, transgenic technology pr
oves useful to produce animal models of human diseases such as Turner's syn
drome or polycystic ovaries.