RGD Reference Report - Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds. - Rat Genome Database

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Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds.

Authors: Brunner, S  Skosyrski, S  Kirschner-Schwabe, R  Knobeloch, KP  Neidhardt, J  Feil, S  Glaus, E  Luhmann, UF  Ruther, K  Berger, W 
Citation: Brunner S, etal., Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1106-15. doi: 10.1167/iovs.08-2742. Epub 2009 Dec 10.
RGD ID: 8553232
Pubmed: PMID:20007830   (View Abstract at PubMed)
DOI: DOI:10.1167/iovs.08-2742   (Journal Full-text)

PURPOSE: To establish mouse models for RPGR-associated diseases by generating and characterizing an Rpgr mutation (in-frame deletion of exon 4) in two different genetic backgrounds (BL/6 and BALB/c). METHODS: Gene targeting in embryonic stem (ES) cells was performed to introduce a in-frame deletion of exon 4 in the Rpgr gene (Rpgr(DeltaEx4)). Subsequently, the mutation was introduced in two different inbred mouse strains by successive breeding. Mutant and wild-type mice of both strains were characterized by electroretinography (ERG) and histology at five time points (1, 3, 6, 9, and 12 months). RPGR transcript amounts were assessed by quantitative RT-PCR. A variety of photoreceptor proteins, including RPGR-ORF15, RPGRIP, PDE6delta/PrBPdelta, rhodopsin, and cone opsin, were localized on retinal sections by immunohistochemistry. RESULTS: Mislocalization of rhodopsin and cone opsin was an early pathologic event in mutant mice of both lines. In contrast, RPGR-ORF15 as well as RPGRIP1 and PDE6delta/PrBPdelta showed similar localizations in mutant and wild-type animals. Functional and histologic studies revealed a mild rod-dominated phenotype in mutant male mice on the BL/6 background, whereas a cone-dominated phenotype was observed for the same mutation in the BALB/c background. CONCLUSIONS: Both Rpgr mutant mouse lines developed retinal disease with a striking effect of the genetic background. Cone-specific modifiers might influence the retinal phenotype in the BALB/c strain. The two lines provide models to study RPGR function in rods and cones, respectively.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
X-linked cone-rod dystrophy 1  ISORpgr (Mus musculus)8553232; 8553232 RGD 
X-linked cone-rod dystrophy 1  IMP 8553232 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