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Fig. 1 | Journal of Neuroinflammation

Fig. 1

From: An AGS-associated mutation in ADAR1 catalytic domain results in early-onset and MDA5-dependent encephalopathy with IFN pathway activation in the brain

Fig. 1

Adar D113H mutation results in growth retardation in mice. A Using CRISPR/Cas9 technology, a single nucleotide guanosine (G) to cytidine (C) mutation was introduced into the mouse genome that codes the Adar D963H mutation in mice, equivalent to the Adar D1113H mutation found in AGS patients. The mutation sites of D1113H and the adjacent mutation K999N in the catalytic domain are indicated with arrows. The protein structure of ADAR1 and the functional domains and isoforms of P150 and P110 are indicated. B The genome G > C replacement was confirmed by Sanger sequencing in the Adar D1113H mouse strain founder and the progenies. The G and C peaks in the Sanger sequencing chromatograms are indicated by arrows. C The homozygous Adar D1113H mice showed a smaller body size, as shown at three and 5 weeks of age. D and E The body weight of the male and female mice was significantly lower in Adar D1113H mice than in the littermate controls from one to 7 weeks of age. Data were analyzed using Mann–Whitney U-test at each timepoint, n = 4–23 (male), 5–22 (female). *p < 0.05; **p < 0.01; p < 0.001, ****p < 0.0001. Lines indicate medians

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