A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)

Proc Natl Acad Sci U S A. 2000 Mar 28;97(7):3649-54. doi: 10.1073/pnas.97.7.3649.


The X-linked RP3 locus codes for retinitis pigmentosa GTPase regulator (RPGR), a protein of unknown function with sequence homology to the guanine nucleotide exchange factor for Ran GTPase. We created an RPGR-deficient murine model by gene knockout. In the mutant mice, cone photoreceptors exhibit ectopic localization of cone opsins in the cell body and synapses and rod photoreceptors have a reduced level of rhodopsin. Subsequently, both cone and rod photoreceptors degenerate. RPGR was found normally localized to the connecting cilia of rod and cone photoreceptors. These data point to a role for RPGR in maintaining the polarized protein distribution across the connecting cilium by facilitating directional transport or restricting redistribution. The function of RPGR is essential for the long-term maintenance of photoreceptor viability.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Base Sequence
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • DNA Primers
  • Disease Models, Animal
  • Eye Proteins*
  • Female
  • Genetic Linkage*
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Microscopy, Electron
  • Photoreceptor Cells, Vertebrate / metabolism
  • Photoreceptor Cells, Vertebrate / ultrastructure
  • Retinitis Pigmentosa / genetics*
  • X Chromosome*


  • Carrier Proteins
  • DNA Primers
  • Eye Proteins
  • RPGR protein, human