Novel dystrophin‐deficient mutants. A, A > T substitution within exon 34 of dmdpc3 results in a nonsense mutation. B, Whole‐mount immunohistochemistry with antibodies against dystrophin revealed loss of dystrophin protein in 3‐dpf‐old dmdpc3 homozygotes. C, At 3 dpf, labelling of the sarcolemma with mCherryCaaX and the myofibril with Lifeact‐GFP confirmed myofibre detachment within dmdpc3 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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Full text @ J. Cell. Mol. Med.
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