Fig. 4

Differences in the level of gene expression and alternative splicing in the RPE of Prpf31^A216P/+ mice compared to WT controls. Volcano plot (a) showing the genes that are upregulated (red) or downregulated (blue) in Prpf31^A216P/+ KI mice with a significance ANOVA p value < 0.05 and fold change < −2 or > 2 when compared with WT mice. Hierarchically clustered (b) genes (rows) and WT or KI mice (columns) with dendrograms and flat clusters; red in the heatmap denotes upregulation while blue denotes downregulation. Scatter plot (c) presents the genes that are alternatively spliced in Prpf31^A216P/+ mice with lower (red) or higher (blue) splicing index when compared with WT mice (WT n = 3 and Prpf31^A216P/+ n = 6)