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


Luhmann, Ulrich F O; Meunier, Dominique; Shi, Wei; Lüttges, Angela; Pfarrer, Christiane; Fundele, Reinald; Berger, Wolfgang (2005). Fetal loss in homozygous mutant Norrie disease mice: A new role of Norrin in reproduction. Genesis, 42(4):253-262.

Abstract

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

Abstract

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

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
04 Faculty of Medicine > Institute of Medical Molecular Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Life Sciences > Endocrinology
Life Sciences > Cell Biology
Uncontrolled Keywords:Cell Biology, Endocrinology, Genetics, Norrin, Ndph knockout mouse, infertility, decidualization, uterus
Language:English
Date:1 August 2005
Deposited On:19 Apr 2023 07:18
Last Modified:29 Apr 2024 01:37
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:1526-954X
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/gene.20141
PubMed ID:16035034
Project Information:
  • : FunderSwiss National Science Foundation (SNF)
  • : Grant ID3100-067786
  • : Project Title
  • : FunderEMDO Foundation Zurich, VELUX Foundation
  • : Grant ID
  • : Project Title