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Titolo:
RETINOSCHISISLIKE ALTERATIONS IN THE MOUSE EYE CAUSED BY GENE TARGETING OF THE NORRIE DISEASE GENE
Autore:
RUETHER K; VANDEPOL D; JAISSLE G; BERGER W; TORNOW RP; ZRENNER E;
Indirizzi:
HUMBOLDT UNIV BERLIN,AUGENKLIN CHARITE VIRCHOW,AUGUSTENBURGER PL 1 D-13353 BERLIN GERMANY UNIV TUBINGEN,AUGENKLIN TUBINGEN GERMANY UNIV NIJMEGEN HOSP,DEPT HUMAN GENET NIJMEGEN NETHERLANDS MAX PLANCK INST MOL GENET BERLIN GERMANY
Titolo Testata:
Investigative ophthalmology & visual science
fascicolo: 3, volume: 38, anno: 1997,
pagine: 710 - 718
SICI:
0146-0404(1997)38:3<710:RAITME>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
LINKED JUVENILE RETINOSCHISIS; CANDIDATE GENE; EXUDATIVE VITREORETINOPATHY; PHOTORECEPTOR DEGENERATION; CLINICAL-FEATURES; LIGHT ADAPTATION; ELECTRORETINOGRAM; DIAGNOSIS; MUTATIONS; DELETION;
Keywords:
ELECTRORETINOGRAM; GENE TARGETING; MOUSE MODEL; NORRIE DISEASE; RETINOSCHISIS; SCANNING LASER OPHTHALMOSCOPY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
38
Recensione:
Indirizzi per estratti:
Citazione:
K. Ruether et al., "RETINOSCHISISLIKE ALTERATIONS IN THE MOUSE EYE CAUSED BY GENE TARGETING OF THE NORRIE DISEASE GENE", Investigative ophthalmology & visual science, 38(3), 1997, pp. 710-718

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 usinggene 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 tile 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 hp scanning laser ophthalmoscopy. Results, Rod and cone ERG responses and fundus morphology were not significantly differentamong 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 intensifies, 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, bur 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 retinaare relatively mild. These findings may he 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 micecompared to that ill humans.

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Documento generato il 29/11/20 alle ore 00:03:24