English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Zendy Pro

Presents the zaia usage as premium feature

ZAIA

Presents AI Discovery search usage as a premium feature

AI Discovery

Presents AI Discovery explain and summary usage as a premium feature

Content Analysis

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Presents the pdf analysis as premium feature

PDF Analysis

1500 Top-up

3000 Top-up

Zendy Basic

2500 Top-up

Zendy Unlimited

Presents the access of premium content as premium feature

Premium Content

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 themdxmouse, an animal model for DMD/BMD. Here we characterized mutations in three additional strains ofmdxmice, themdx  2cv,mdx  4cvandmdx  5cvalleles. The mutation in themdx  2cvmouse 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 themdx  5cvallele, 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 themdx  4cvallele, 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 ofmdxmouse mutants that differ in their repertoire of isoform expression, such that these mice should be useful for studies of dystrophin expression and function. Themdx  4cvandmdx  5cvstrains may be of additional use in gene transfer studies due to their low frequency of mutation reversion.

Differential Expression of Dystrophin Isoforms in Strains of mdx Mice with Different Mutations