An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.

@article{Berger1996AnAM,
  title={An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.},
  author={Wolfgang J Berger and Dorien J R van De Pol and Dietmar B{\"a}chner and F. J. J. M. Oerlemans and Huub J Winkens and H. Hameister and B. Wieringa and Wiljan Hendriks and Hans Hilger Ropers},
  journal={Human molecular genetics},
  year={1996},
  volume={5 1},
  pages={51-9}
}
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… CONTINUE READING