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Gene Review

Rs1  -  retinoschisis (X-linked, juvenile) 1 (human)

Mus musculus

Synonyms: Retinoschisin, Rs1h, X-linked juvenile retinoschisis protein homolog, Xlrs1, tmgc1
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Disease relevance of Rs1


High impact information on Rs1


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].


  1. An ENU-induced mutation in Rs1h causes disruption of retinal structure and function. Jablonski, M.M., Dalke, C., Wang, X., Lu, L., Manly, K.F., Pretsch, W., Favor, J., Pardue, M.T., Rinchik, E.M., Williams, R.W., Goldowitz, D., Graw, J. Mol. Vis. (2005) [Pubmed]
  2. Genome-wide expression profiling of the retinoschisin-deficient retina in early postnatal mouse development. Gehrig, A., Langmann, T., Horling, F., Janssen, A., Bonin, M., Walter, M., Poths, S., Weber, B.H. Invest. Ophthalmol. Vis. Sci. (2007) [Pubmed]
  3. The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors. Reid, S.N., Akhmedov, N.B., Piriev, N.I., Kozak, C.A., Danciger, M., Farber, D.B. Gene (1999) [Pubmed]
  4. Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene. Johnson, B.A., Ikeda, S., Pinto, L.H., Ikeda, A. Vis. Neurosci. (2006) [Pubmed]
  5. The role of caspases in photoreceptor cell death of the retinoschisin-deficient mouse. Gehrig, A., Janssen, A., Horling, F., Grimm, C., Weber, B.H. Cytogenet. Genome Res. (2006) [Pubmed]
  6. RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis. Zeng, Y., Takada, Y., Kjellstrom, S., Hiriyanna, K., Tanikawa, A., Wawrousek, E., Smaoui, N., Caruso, R., Bush, R.A., Sieving, P.A. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  7. Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Molday, L.L., Hicks, D., Sauer, C.G., Weber, B.H., Molday, R.S. Invest. Ophthalmol. Vis. Sci. (2001) [Pubmed]
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