DMD(mdx3Cv) and DMD(mdx4Cv) dystrophin mutations in mice: rapid polymerase chain reaction genotyping

We devised non-radioactive PCR assays for the DMD(mdx3Cv) and DMD(mdx4Cv) mouse dystrophin point mutations, in which mutant and wild type reactions electrophoresed separately diagnose whether the DNA carries the mutant, wild type, or both alleles. This simple and reliable assay facilitates the use of these mutant mouse models, which have an extended inflammatory phase (DMD(mdx3Cv)), less reversion to wild type (DMD(mdx4Cv)), and reduced expression of dystrophin mRNAs arising from internal promoter usage than the DMD(mdx) mouse. The PCR assays described facilitate the use of the DMD(mdx3Cv) and DMD(mdx4Cv) mutant mouse models, when maintaining the mutations as heterozygotes, backcrossing into different inbred genetic backgrounds, or when crossing targeted mutations into these dystrophic backgrounds.