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Berger et al., 2020 - Effect of Ataluren on dystrophin mutations

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FIGURE 1

Novel dystrophin‐deficient mutants. A, A > T substitution within exon 34 of dmd^pc3 results in a nonsense mutation. B, Whole‐mount immunohistochemistry with antibodies against dystrophin revealed loss of dystrophin protein in 3‐dpf‐old dmd^pc3 homozygotes. C, At 3 dpf, labelling of the sarcolemma with mCherryCaaX and the myofibril with Lifeact‐GFP confirmed myofibre detachment within dmd^pc3 homozygotes. D, 5 bp from exon 53 and 64 bp from the downstream intron was removed from the dystrophin gene in dmd^−69bp mutants. Altered splicing in dmd^−69bp led to integration of 10 bp from the intron downstream of exon 53 into the dystrophin transcript, resulting in a frameshift and multiple subsequent PTCs. E, Dystrophin protein is lost in dmd^−69bp homozygotes, as indicated by antibodies against dystrophin at 3 dpf. F, Retracting myofibres within 3‐dpf‐old dmd^−69bp were revealed in the double transgenic background of Tg(acta1:mCherryCaaX) and Tg(acta1:lifeact‐GFP)

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This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ J. Cell. Mol. Med.