CSMD3 Deficiency Leads to Motor Impairments and Autism-Like Behaviors via Dysfunction of Cerebellar Purkinje Cells in Mice

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Figure 1.
Figure 1.

Distribution of CSMD3-expressing cells in the cerebellar cortex. A, B, Brain RNA-Seq database analysis of CSMD3 mRNA expression in different cell types: from Mus musculus (A); from Homo sapiens (B). FPKM, Fragments per kilobase of transcript per million mapped. C, Immunofluorescence staining of CSMD3 (green) with NeuN, MBP (red), and DAPI (blue) in cultured hippocampal neurons (top) and MO3.13 human oligodendrocyte cells, respectively. Scale bars: top, 40 µm; bottom, 10 µm. D, qRT-PCR analysis of CSMD3 mRNA expression in the brains of adult mice. E, Immunostaining of CSMD3 (green) in cerebellar coronal section of adult wild-type mice. Scale bar, 1 mm. F, Representative high-magnification images of CSMD3 immunostaining in cerebellar hemisphere (left) and vermis (middle and right), respectively. Note that the CSMD3-expressing cells are present in the PCL, as well as in the ML and GL in both hemisphere (left) and vermis (middle), whereas the CSMD3-expressing cells are not distributed following the pattern of zebrin-II (right). Scale bar, 100 µm. G, H, Distribution of CSMD3-expressing PCs in cerebellar hemisphere. G, Double-immunofluorescence staining with CSMD3 (green) and CB (red) in cerebellar hemisphere (sagittal section). Scale bar, 500 µm. H, Bar graph represents the percentage of CSMD3/CB-positive PCs throughout all lobules in cerebellar hemisphere. I, J, Distribution of CSMD3-expressing PCs in cerebellar vermis. I, Double immunofluorescence staining with CSMD3 (green) and CB (red) in cerebellar vermis (sagittal section). Scale bar, 500 µm. J, Bar graph represents the percentage of CSMD3/CB-positive PCs throughout all lobules in cerebellar vermis. Data are presented as the mean ± SEM, but for A and B are presented as the mean ± SD.

  1. The Journal of Neuroscience vol. 43 no. 21 3949-3969
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