A brain isoform of mouse dystrophin, muscular dystrophy (Dmd) cDNA lacking exons 71-74, encompassing 330 bp corresponding to nt 10424-10752 of the published sequence (GenBank accession M68859), was used to make the transgene. Expression is driven in muscle by the creatine kinase, muscle (Ckm) regulatory sequences, including 3,300 bp of 5' flanking sequence, exon 1, intron 1 and exon 2 truncated just upstream of the translation initiation codon. By immunoblot analysis, mice of this line were shown to express the delta330 dystrophin isoform in diaphragm at a level similar to that of the normal muscle isoform in control mice, and in quadriceps at 2-5-fold the control level. Immunohistochemical analysis demonstrated correct localization of the abbreviated protein to the sarcolemmal membrane. (J:20979)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count