Figure 5: Targeted mutation of mouse Vps16 gene. | Scientific Reports

Figure 5: Targeted mutation of mouse Vps16 gene.

From: Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia

Figure 5

(a) Schematic representation of the genome localization of c.156 C > A mutation in Vps16 gene and construction of the targeting sgRNA and oligonucleotide. UTR regions are colored in yellow, β-Propeller domain in purple and α-Solenoid domain in blue. Mutation site is indicated by red color and black arrows. PAM motif is indicated in green. (b) Sequencing chromatograms of Vps16 c.156 C > A mutant mice. Mutation site is indicated by arrows. (c) Western blot analysis of VPS16 expression from retro-orbital blood of WT and Vps16-mutant mice. (d) Rotating rod analysis of motor function in WT and Vps16-mutant mice. Graph represents the mean ± SE obtained from at least three independent experiments. The unpaired Student’s T-test revealed a significant difference between WT (n = 5) and Vps16-mutant mice (n = 3). ***Represents p < 0.0001 compared to WT mice.

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