Disease relevance of Rs1

• Genetic analysis revealed a mutation in Rs1h, making this the first murine model of X-linked retinoschisis in which the gene is expressed [1].

High impact information on Rs1

• PURPOSE: The Rs1h knockout mouse displays retinal features typical for X-linked juvenile retinoschisis (RS) [2].
• RESULTS: Based on biostatistic and knowledge-based DNA-microarray analyses we have identified differentially regulated retinal genes in early postnatal stages of the Rs1h-deficient mouse defining key molecular pathways including adhesion, cytoskeleton, vesicular trafficking, and immune response [2].
• Analysis of the predicted amino acid sequence indicates that the Xlrs1 mRNA may encode a secretable, adhesion protein [3].
• Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene [4].
• No direct influence of the Casp1 genotype on apoptosis could be identified although striking differences in the overall number of resident microglia were observed independent of the Rs1h genotype [5].

Analytical, diagnostic and therapeutic context of Rs1

• After intraocular administration of AAV(2/2)-CMV-Rs1h, immunohistochemistry showed retinoschisin expression in all retinal layers of Rs1h(-/Y) mice, and ERG recordings showed reversal of the electronegative waveform and restoration of the normal positive b-wave [6].
• Sequence analysis of the positional candidate gene Rs1h revealed a T->C exchange at the second base of intron 2 of the Rs1h gene [1].
• However, Rs1h expression was detected in rd/rd mice by RT-PCR [7].
• Rs1h mRNA expression was measured from the eyes of wild-type and rd/rd mice by Northern blot analysis and reverse transcription-polymerase chain reaction (RT-PCR) [7].

References