Fig. 4: Gli1(S941E) knock-in reduces the incidence and severity of MBSHH in GFAP-Cre;Smo-M2 pups.
a, b Western blot analyses of cytosolic versus nuclear Gli1 and qRT-PCR analysis for Ptch1 mRNA in cerebella of Smo-M2, Gli1(S941E)+/+, GFAP-Cre;Smo-M2, and GFAP-Cre;Smo-M2;Gli1(S941E)+/+ pups at 2 weeks of age (n = 3 mice per group). c Gross appearance of cerebella and H&E staining for cerebellar sections from the above pups at 2 weeks of age. Bar, 200 μm. d The incidence of MBSHH in the above pups at 2 weeks of age. e Quantification of cerebellar weights and lobule number of sagittal sections of the cerebellar vermis in the above pups (n = 5 mice for Smo-M2, and n = 6 mice for others). f, g Anti-Calbindin, anti-BLBP, and anti-NeuN labeling in sagittal sections of the vermis and the quantification (n = 5 mice per group), Bar, 20 μm. h–k Representative images for TUNEL staining and immunohistochemistry staining for Ki-67 and Gli1 in cerebellar sections from the above pups at 2 weeks of age (n = 3 mice per group). Bar, 20 μm. l Overall survival rates of GFAP-Cre;Smo-M2 pups with MBSHH (n = 119 mice) and GFAP-Cre;Smo-M2;Gli1(S941E)+/+ (n = 212 mice) pups with or without pathologically proven MBSHH. Median survival times are shown. Data were presented as mean ± sd, two-tailed Student’s t test for (b, e, g, k), Chi-squared test for (d), Log-rank analysis for (l). A representative example of three replicates is shown for (a). Source data are provided as a Source Data file.
