Human Molecular Genetics, Vol 5, 51-59, Copyright © 1996 by Oxford University Press
W Berger, D van de Pol, D Bachner, F Oerlemans, H Winkens, H Hameister, B Wieringa, W Hendriks and HH 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.
ARTICLES
An animal model for Norrie disease (ND): gene targeting of the mouse ND gene
Department of Human Genetics, University Hospital Nijmegen, Netherlands.
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