title: The molecular basis of muscular dystrophy in the mdx mouse: a point mutation.
abstract: The mdx mouse is an X-linked myopathic mutant, an animal model for human Duchenne muscular dystrophy. In both mouse and man the mutations lie within the dystrophin gene, but the phenotypic differences of the disease in the two species confer much interest on the molecular basis of the mdx mutation. The complementary DNA for mouse dystrophin has been cloned, and the sequence has been used in the polymerase chain reaction to amplify normal and mdx dystrophin transcripts in the area of the mdx mutation. Sequence analysis of the amplification products showed that the mdx mouse has a single base substitution within an exon, which causes premature termination of the polypeptide chain.
authors.affiliation: Medical Research Unit, MRC Centre, Cambridge, United Kingdom.
authors.forename: P
authors.initials: P
authors.lastname: Sicinski
authors.forename: Y
authors.initials: Y
authors.lastname: Geng
authors.forename: A S
authors.initials: AS
authors.lastname: Ryder-Cook
authors.forename: E A
authors.initials: EA
authors.lastname: Barnard
authors.forename: M G
authors.initials: MG
authors.lastname: Darlison
authors.forename: P J
authors.initials: PJ
authors.lastname: Barnard
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D003062:Codon; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D004259:DNA-Directed DNA Polymerase; D016189:Dystrophin; D005091:Exons; D005784:Gene Amplification; D006801:Humans; D051379:Mice; D008817:Mice, Mutant Strains; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D009137:Muscular Dystrophy, Animal / Q000235:genetics*; D009154:Mutation; D009693:Nucleic Acid Hybridization; D010641:Phenotype
chemical_list: D003062:Codon; D015342:DNA Probes; D016189:Dystrophin; D009124:Muscle Proteins; D004247:DNA; D004259:DNA-Directed DNA Polymerase