caa a22 4500 397574053 CHVBK 20180308164850.0 cr unu---uuuuu 161202e199601 xx s 000 0 eng 10.1093/hmg/5.1.51 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.1.51 An Animal Model for Norrie Disease (ND): Gene Targeting of the Mouse Nd Gene [Elektronische Daten] [Wolfgang Berger, Dorien van de Pol, Dietmar Bächner, Frank Oerlemans, Huub Winkens, Horst Hameister, Bé Wieringa, Wiljan Hendriks, Hans-Hilger Ropers] In order to elucidate the cellular and molecular processes which are involved in Norrie disease (ND), we have used gene targeting technology to generate ND mutant mice. The murine homologue of the ND gene was cloned and shown to encode a polypeptide that shares 94% of the amino acid sequence with its human counterpart. RNA in situ hybridization revealed expression in retina, brain and the olfactory bulb and epithelium of 2 week old mice. Hemizygous mice carrying a replacement mutation in exon 2 of the ND gene developed retrolental structures in the vitreous body and showed an overall disorganization of the retinal ganglion cell layer. The outer plexiform layer disappears occasionally, resulting in a juxtaposed inner and outer nuclear layer. At the same regions, the outer segments of the photoreceptor cell layer are no longer present. These ocular findings are consistent with observations in ND patients and the generated mouse line provides a faithful model for study of early pathogenic events in this severe X-linked recessive neurological disorder. © 1996 Oxford University Press Berger Wolfgang Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut van de Pol Dorien Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut Bächner Dietmar Abteilung für Klinische Genetik, Universität Ulm, Ulm, Germany aut Oerlemans Frank Department of Cell Biology and Histology, University Nijmegen, Nijmegen, The Netherlands aut Winkens Huub Department of Ophthalmology, University Hospital Nijmegen, Nijmegen, The Netherlands aut Hameister Horst Abteilung für Klinische Genetik, Universität Ulm, Ulm, Germany aut Wieringa Bé Department of Cell Biology and Histology, University Nijmegen, Nijmegen, The Netherlands aut Hendriks Wiljan Department of Cell Biology and Histology, University Nijmegen, Nijmegen, The Netherlands aut Ropers Hans-Hilger Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut Human Molecular Genetics Oxford University Press 5/1(1996-01), 51-59 0964-6906 5:1<51 1996 5 hmg https://doi.org/10.1093/hmg/5.1.51 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.1.51 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Berger Wolfgang Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- van de Pol Dorien Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Bächner Dietmar Abteilung für Klinische Genetik, Universität Ulm, Ulm, Germany aut NATIONALLICENCE 700 1- Oerlemans Frank Department of Cell Biology and Histology, University Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Winkens Huub Department of Ophthalmology, University Hospital Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Hameister Horst Abteilung für Klinische Genetik, Universität Ulm, Ulm, Germany aut NATIONALLICENCE 700 1- Wieringa Bé Department of Cell Biology and Histology, University Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Hendriks Wiljan Department of Cell Biology and Histology, University Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Ropers Hans-Hilger Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/1(1996-01), 51-59 0964-6906 5:1<51 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford