Fig. 6
Generation of an XLCM rabbit model using the ABE7.10 system. a The target sequence within the Dmd locus. Target sequence (black), PAM region (green), and substituted nucleotide (red, R = A/G). b Diagrammatic representation of mutations associated with XLCM in humans and rabbits. c Representative Sanger sequencing chromatograms of DNA from WT and mutant rabbits (D1 and D3). Red arrow indicates the substituted nucleotide. The relevant codon identities at the target site are presented beneath the DNA sequence. WT wild-type. d PCR amplicons of the target site from genomic DNA of mutant rabbits were subcloned into the pGM-T vector and sequenced. The number of clones for each sequence pattern is indicated. Target sequence (underlined), PAM region (green), and substituted nucleotide (red). e Serum CK levels of WT and T279A mutant rabbits (n = 4). **p < 0.01, Student’s t test. f Representative gross morphology of whole hearts from WT and T279A mutant rabbits at 1 month of age. g Transverse cross sections at mid-ventricle level of whole hearts. Corresponding H&E-stained and Masson’s trichrome-stained longitudinal sections of cardiac muscle showed myocyte disarray (black arrow) and fibrosis (red arrow). Scale bar in 1 and 2 represent 0.4 mm and scale bar in 3, 4, 5, and 6 represent 50 μm
