Skip to main content
. 2020 Jun 12;7(7):1117–1131. doi: 10.1002/acn3.51093

Figure 2.

Figure 2

The recurrent PJA1 variant in patients with NDD causes a drastic decrease in PJA1 protein amount in mice. (A) The amino acid sequence of PJA1 is highly conserved between human and mouse and the arginine residue #376 in human is found at #365 in mouse. A knock‐in mouse was generated by introducing the missense variant c.1093C>T (p.R365C) mimicking the c.1126C>T (p.R376C) variant identified in patients with NDD, and a knockout mouse was created with a frameshift c.729_744GGAACCGGTGGTGAGAdel (p.E243fs) at the amino acid position #243. (B, C) Western blots of proteins extracted from the mouse brains showed a significant decrease (38.1%) of PJA1 protein in the p.R365C hemizygous knock‐in mice (B) and a complete loss in the p.E243fs hemizygous knockout mice (C). Horizontal bars in B and C represent groups’ average values. One‐way ANOVA with significance set at (*) P < 0.05 and (**)P < 0.01.