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

Abstract

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.