Fig. 5: SMARCA1 variants generate stable proteins in vitro, and Smarca1 KO mice have minor changes in brain size.

A Immunoblots for SMARCA1 and FLAG protein following transfection of constructs expressing WT or four different SMARCA1 variants (R253*, R259G, R751Q, and E771K) into U2OS cells. Similar results were obtained from two independent transfections. B Transfected U2OS cells were also analyzed by immunofluorescence for FLAG (green) and SMARCA1 (red) expression. Nuclei were counterstained with DAPI. Scale bars = 20 μm. Images are representative of two independent transfections with >50 transfected cells examined per experiment. C Adult cortex and cerebellum protein lysates isolated from WT and Smarca1 KO mice were immunoblotted for SMARCA1 protein. Vinculin served as a protein loading control. Genotypes of the animals are shown at the bottom of each lane. Gt, Gene trap allele; +, WT allele; Y, Y chromosome; Cre-, absence of Cre recombinase; Cre+, presence of Cre recombinase. D Bar graph (top) depicting the neuroanatomical size differences observed as a percentage of the WT mice. Each numbered bar identifies the brain region analyzed (as indicated in the legend on the right) for area and length differences between Smarca1 cKO (n = 7) and control littermates (n = 5). Schematic illustration of a mouse sagittal brain section showing an overview of the observed changes (bottom). The light and dark yellow shading highlights the statistically significant differences (p < 0.05 and p < 0.01, respectively) while the grey shading denotes regions not analyzed for this study. Source data are provided as a Source Data file.