Fig. 3.

Generation and validation of m-DNAJB6 c.698_702del KI mice. a Schematic representation of the KI mouse DNAJB6 allele displaying the c.698_702del mutation flanked by two homology arms. b Sequencing of the m-DNAJB6 gene demonstrating the presence of the mutation in a single allele of a homozygous (HOM) and wild-type (WT) animal. c-f RT-PCR analysis of mouse-wild type DNAJB6a (wt m-DNAJB6a), mouse-mutant DNAJB6a (mut m-DNAJB6a), mouse-DNAJB6b (m-DNAJB6b) and mouse-total DNAJB6 (total m-DNAJB6a) in the gastrocnemius muscle of HOM or heterozygous (HET) mice and WT littermates. Values are expressed as mean ± SEM (n = 5–13 per genotype). g Western blot analysis showing that the protein lysate from WT exclusively produced a wt m-DNAJB6a band, while HOM or HET mice produced an mutant m-dnajb6a band specifically (arrow). GAPDH was used as a loading control. h-j Quantification of relative intensities of proteins shown in g. Data represent mean ± SEM of 3 independent experiments (n = 3). P value = * < 0.05, ** < 0.01