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Fig. 6 | Genome Medicine

Fig. 6

From: Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice

Fig. 6

Differential gene expression with Scn1a 1b deletion. a Bar plot indicating RPKM Scn1a expression between WT and 1b+/− or 1b−/− mutants in postnatal day (P) 7 forebrain or P32 hippocampus, (mean ± SEM). b Mouse (mm9) Scn1a locus showing decrease in coverage in representative P32 heterozygous and homozygous 1b deletion carriers compared to wildtype controls. c Schematic showing splicing of m1a and m1b sequences with first Scn1a coding exon in reference. d Bar plots showing the number of sequencing reads that overlap each splicing event, m1b or m1a locus, and the entire Scn1a locus along the x-axis for P32 WT, 1b+/−, and 1b−/− mice. The full table is included in the supplement. e Heatmap and scatterplot of differentially expressed genes in P32 1b+/− mice. In the scatterplot, genes with FDR < 0.05 are in red while the dashed line indicates a p value < 0.05. f Heatmap and scatterplot of differentially expressed genes in P32 1b−/− mice. In the scatterplot, genes with FDR < 0.05 are in red while the dashed line indicates a p value < 0.05. g Table showing select pathways enriched in differentially expressed genes for P32 1b+/− (left) or 1b−/− (right) mice. Pathways enriched in downregulated genes are shown in gray. Pathways enriched in upregulated genes are shown in white. Ontologies are biological pathways (BP), molecular function (MF), or cellular component (CC)

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