Figure 1. Generation of CHCHD10S55L mice.
A. Alignment of human and mouse CHCHD10 protein sequences. Amino acid S55 in mice corresponds to the S59 in humans (highlighted in red). B. CRISPR guide RNA to create the TCA→TTA mutation in exon 2 of mouse CHCHD10 gene which changes the codon for serine to leucine. C. DNA sequence analyses of heterozygote and homozygote CHCHD10S55L mice. The arrow and dashed box indicate the C→T mutation introduced by gene editing in the CHCHD10 gene. D. Kaplan-Meier survival analysis. Heterozygous CHCHD10S55L mice (n=21) have shortened lifespan than WT mice (n=20). The average lifespan of male (n=8) and female (n=13) heterozygous CHCHD10S55L mice is shown (inset). E. Heterozygous CHCHD10S55L mice at 330 days of age show decreased body size and kyphosis. F. and G. Body weight measurements. Female and male CHCHD10S55L heterozygote mice exhibit a progressive reduction in average body weight, which is more severe in homozygote CHCHD10S55L mice. n=5 mice per group. Error bars indicate SD. *p<0.05, **p<0.01, ***p<0.001, by ANOVA with repeated measures and Holm-Sidak correction for multiple comparisons.