SciCrunch will be offline today beginning at 6:30 PM PDT for about 15 minutes.
  • Register
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.


Leaving Community

Are you sure you want to leave this community? Leaving the community will revoke any permissions you have been granted in this community.


Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure.

Deleterious mutations in RS1 encoding retinoschisin are associated with X-linked juvenile retinoschisis (RS), a common form of macular degeneration in males. The disorder is characterized by a negative electroretinogram pattern and by a splitting of the inner retina. To gain further insight into the function of the retinoschisin protein and its role in the cellular pathology of RS, we have generated knockout mice deficient in Rs1h, the murine ortholog of the human RS1 gene. We show that pathologic changes in hemizygous Rs1h(-/Y) male mice are evenly distributed across the retina, apparently contrasting with the macula-dominated features in human. Similar functional anomalies in human and Rs1h(-/Y) mice, however, suggest that both conditions are a disease of the entire retina affecting the organization of the retinal cell layers as well as structural properties of the retinal synapse.

Pubmed ID: 11983912


  • Weber BH
  • Schrewe H
  • Molday LL
  • Gehrig A
  • White KL
  • Seeliger MW
  • Jaissle GB
  • Friedburg C
  • Tamm E
  • Molday RS


Proceedings of the National Academy of Sciences of the United States of America

Publication Data

April 30, 2002

Associated Grants

  • Agency: NEI NIH HHS, Id: EY 2422

Mesh Terms

  • Animals
  • Blotting, Northern
  • Blotting, Western
  • Cells, Cultured
  • Electrophysiology
  • Electroretinography
  • Eye Proteins
  • Genetic Vectors
  • Mice
  • Mice, Knockout
  • Microscopy, Electron
  • Microscopy, Fluorescence
  • Mutation
  • Ophthalmoscopy
  • Retina
  • Synapses