FIGURE

FIGURE 1

ID

ZDB-FIG-200620-16

Publication

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)

Expression Data

Gene:	dmd
Fish:	WT dmd^pc39/pc39 dmd^pc40/pc40
Anatomical Term:	muscle cell
Stage:	Protruding-mouth

Expression Detail

Antibody Labeling

Phenotype Data

Fish:	dmd^pc39/pc39 dmd^pc40/pc40
Observed In:	muscle cell
Stage:	Protruding-mouth

Phenotype Detail

Acknowledgments

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