March 1997
Volume 38, Issue 3
Free
Articles  |   March 1997
Retinoschisislike alterations in the mouse eye caused by gene targeting of the Norrie disease gene.
Author Affiliations
  • K Ruether
    Augenklinik Charité-Virchow, Humboldt Universität, Berlin, Germany.
  • D van de Pol
    Augenklinik Charité-Virchow, Humboldt Universität, Berlin, Germany.
  • G Jaissle
    Augenklinik Charité-Virchow, Humboldt Universität, Berlin, Germany.
  • W Berger
    Augenklinik Charité-Virchow, Humboldt Universität, Berlin, Germany.
  • R P Tornow
    Augenklinik Charité-Virchow, Humboldt Universität, Berlin, Germany.
  • E Zrenner
    Augenklinik Charité-Virchow, Humboldt Universität, Berlin, Germany.
Investigative Ophthalmology & Visual Science March 1997, Vol.38, 710-718. doi:
  • Views
  • PDF
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      K Ruether, D van de Pol, G Jaissle, W Berger, R P Tornow, E Zrenner; Retinoschisislike alterations in the mouse eye caused by gene targeting of the Norrie disease gene.. Invest. Ophthalmol. Vis. Sci. 1997;38(3):710-718.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

PURPOSE: To investigate the retinal function and morphology of mice carrying a replacement mutation in exon 2 of the Norrie disease gene. METHODS: Recently, Norrie disease mutant mice have been generated using gene targeting technology. The mutation removes the 56 N-terminal amino acids of the Norrie gene product. Ganzfeld electroretinograms (ERGs) were obtained in five animals hemizygous or homozygous for the mutant gene and in three female animals heterozygous for the mutant gene. As controls, three males carrying the wild-type gene were examined. Electroretinogram testing included rod a- and b-wave V-log I functions, oscillatory potentials, and cone responses. The fundus morphology has been visualized by scanning laser ophthalmoscopy. RESULTS: Rod and cone ERG responses and fundus morphology were not significantly different among female heterozygotes and wild-type mice. In contrast, the hemizygous mice displayed a severe loss of ERG b-wave, leading to a negatively shaped scotopic ERG and a marked reduction of oscillatory potentials. The a-wave was normal at low intensities, and only with brighter flashes was there a moderate amplitude loss. Cone amplitudes were barely recordable in the gene-targeted males. Ophthalmoscopy revealed snowflakelike vitreal changes, retinoschisis, and pigment epithelium irregularities in hemizygotes and homozygotes, but no changes in female heterozygotes. CONCLUSIONS: The negatively shaped scotopic ERG in male mice with a Norrie disease gene mutation probably was caused by retinoschisis. Pigment epithelial changes and degenerations of the outer retina are relatively mild. These findings may be a clue to the embryonal retinoschisislike pathogenesis of Norrie disease in humans or it may indicate a different expression of the Norrie disease gene defect in mice compared to that in humans.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×