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E-GEOD-53411 - Gene profiling studies in postnatal Mfrprd6 mutant eyes reveal differential expression of Prss56, a trypsin-like serine protease, and genes involved in visual and phototransduction pathways

Released on 24 October 2014, last updated on 1 November 2014
Mus musculus
Samples (12)
Array (1)
Protocols (5)
Mutations in the membrane frizzled-related gene (Mfrp) are linked to posterior microphthalmia, retinitis pigmentosa and nanophthalmia in humans. In homozygous Mfrprd6 mice, a splice site mutation causes a slow photoreceptor degeneration characterized by shortening and disorganization of outer segments with eventual photoreceptor loss. To better understand the function of MFRP in the retina, microarray analysis was carried out in mutant and control mice at postnatal day14 (P14), prior to the loss of photoreceptors. Analysis of the data revealed differentially expressed RPE and neuroretina transcripts. Although the analysis of the microarray data from Mfrprd6 mutant mice compared to age-matched wild-type controls identified some transcripts with relative fold change > 5.0, most of the differentially expressed genes showed a relative fold change between1.5 - 2.0. Global gene expression analysis using Ingenuity Pathway Analysis software identified decreased levels of transcripts in phototransduction and visual pathways in Mfrprd6 mutants. Select candidate transcripts were validated by quantitative real-time PCR analyses. The expression of RPE-specific visual transduction protein, RPE65, was significantly decreased in Mfrprd6 mutants. As an indirect consequence of the primary RPE cell defect due to the Mfrprd6 mutation, retinal specific transcripts Rgr, Pde6a, GuCa1b, and Rgs9 were also significantly decreased. We also confirmed the significantly elevated levels of Prss56, a gene previously associated with myopia and open angle glaucoma. In the Mfrprd6 mutant, a progressive increase in Prss56 mRNA levels from 14- to 70-fold was observed from P7 to P21, respectively. In situ hybridization and glutamine synthetase staining of mutant eyes indirectly identified Müller glia in the inner nuclear layer of retina as the cell type expressing the Prss56 transcript. This experiment had one model term, a combination of strain and time, which consisted of four levels (B6_P0, B6_P14, Rd6_P0 and Rd6_P14). Three biological replicates were used per term level. A total of 12 Affymetrix Mouse 430v2 Arrays were used in gene expression analysis.
Experiment type
transcription profiling by array 
Timothy Michael Stearns <>, Jungyeon Won, Jürgen K Naggert, Mark P Krebs, Patsy M Nishina, Ramani Soundarararajan, Timothy Stearns, Wanda Hicks
Investigation descriptionE-GEOD-53411.idf.txt
Sample and data relationshipE-GEOD-53411.sdrf.txt
Raw data (1)
Processed data (1)
Array designA-AFFY-45.adf.txt