Figure 6 | Scientific Reports

Figure 6

From: CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease

Figure 6

Three-month-old Gaaem1935C>A KI mice display anatomical features of left ventricular cardiac hypertrophy. (A) Representative M-mode echocardiographic images showing cardiac dimensions: IVSd: yellow arrows; LVPWd: red arrows, and LVIDd / LVIDs: white arrows. (B) KI IVSd and LVPWd are significantly increased versus WT and HET animals, indicative of concentric hypertrophic cardiomyopathy. (C) LVIDd and LVIDs do not significantly differ between WT, HET, and KI animals. (D) KI fractional shortening is significantly increased versus WT indicative of hyperdynamic contractility; KI LVMI is significantly increased versus WT indicative again of hypertrophic cardiomyopathy. All measurements from WT (n = 12; black bars), HET (n = 10; striped bars), and KI (Gaa.em1935C>A; n = 10; white bars) mice were obtained from 3-month-old mice. Data are shown as mean ± SD. Heart rate (HR) was maintained greater than 500 bpm throughout measurements. All comparisons were analyzed using one-way ANOVA with the Tukey post-hoc test. *p < 0.05, **p < 0.01, ***p < 0.001, ****p < 0.0001. ns: not significant.

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