Human Molecular Genetics, Vol 5, 1149-1153, Copyright © 1996 by Oxford University Press
WB Im, SF Phelps, EH Copen, EG Adams, JL Slightom and JS Chamberlain
Mutations in the dystrophin gene are responsible for Duchenne and Becker
muscular dystrophy (DMD/BMD). Studies of dystrophin expression and function
have benefited from use of the mdx mouse, an animal model for DMD/BMD. Here
we characterized mutations in three additional strains of mdx mice, the
mdx2cv, mdx4cv and mdx5cv alleles. The mutation in the mdx2cv mouse was
found to be a single base change in the splice acceptor sequence of
dystrophin intron 42. This mutation leads to a complex pattern of aberrant
splicing that generates multiple transcripts, none of which preserve the
normal open reading frame. In the mdx5cv allele, the dystrophin mRNA
contains a 53 bp deletion of sequences from exon 10. Analysis of the
genomic DNA uncovered a single A to T transversion in exon 10. Although
this base change does not alter the encoded amino acid, a new splice donor
was created (GTGAG) that generates a frameshifting deletion in the
processed mRNA. In the mdx4cv allele, direct sequencing revealed a C to T
transition in exon 53, creating an ochre codon (CAA to TAA). The
differential location of these mutations relative to the seven known
dystrophin promoters results in a series of mdx mouse mutants that differ
in their repertoire of isoform expression, such that these mice should be
useful for studies of dystrophin expression and function. The mdx4cv and
mdx5cv strains may be of additional use in gene transfer studies due to
their low frequency of mutation reversion.
ARTICLES
Differential expression of dystrophin isoforms in strains of mdx mice with different mutations
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