RGD Reference Report - A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). - Rat Genome Database

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

Authors: Hong, DH  Pawlyk, BS  Shang, J  Sandberg, MA  Berson, EL  Li, T 
Citation: Hong DH, etal., Proc Natl Acad Sci U S A. 2000 Mar 28;97(7):3649-54.
RGD ID: 8553204
Pubmed: PMID:10725384   (View Abstract at PubMed)
PMCID: PMC16294   (View Article at PubMed Central)
DOI: DOI:10.1073/pnas.060037497   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
retinitis pigmentosa 3  ISORpgr (Mus musculus)8553204; 8553204 RGD 
retinitis pigmentosa 3  IMP 8553204 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Rpgr  (retinitis pigmentosa GTPase regulator)

Genes (Mus musculus)
Rpgr  (retinitis pigmentosa GTPase regulator)

Genes (Homo sapiens)
RPGR  (retinitis pigmentosa GTPase regulator)


Additional Information