Fetal loss in homozygous mutant Norrie disease mice: a new role of Norrin in reproduction.

摘要: Mutations in the Norrie disease pseudoglioma gene (NDP) are known to cause X-linked recessive disease. In addition, NDP mutations have been found other vasoproliferative retinopathies such as familial exudative vitreoretinopathy, retinopathy of prematurity, and Coats disease, suggesting a role for Norrin vascular development. Here we report that female mice homozygous homolog (Ndph) knockout allele exhibit almost complete infertility, while heterozygous females hemizygous males fertile. Histological examinations RNA situ hybridization analyses revealed defects development decidualization pregnant Ndph−/− from embryonic day 7 (E7) onwards, resulting loss. Using RT-PCR also demonstrate, first time, expression Ndph mouse uteri deciduae well human placenta. Taken together, these data provide strong evidence playing an important reproductive tissues. genesis 42:253–262, 2005. © 2005 Wiley-Liss, Inc.