Extended Data Fig. 6: Effects of βII-spectrin deficiency on neuronal morphology and brain development.
From: Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
a, Image, representative from three independent experiments show DIV8 βII-SpKO cortical neurons rescued with WT GFP-βIISp or with GFP-βIISp bearing variants within the distal portion of the CH2 domain. Neurons were stained for actin (phalloidin) and endogenous αII-spectrin. Yellow dotted lines demark the cell edge. Scale bar, 5 μm. b, Images of PND25 βII-SpNexWT and βII-SpNexKO brains stained for neurofilament to label axons and DAPI. Staining for βII-spectrin show specific loss of the protein in axons from callosal projection neurons from βII-SpNexKO mice. Scale bar, 50 μm. White dotted lines denote the position and boundaries of the corpus callosum (CC). Brains were collected from two separate litters and processed for staining and imaging as part of one independent experiment.
