MURINE MUSCULAR-DYSTROPHY CAUSED BY A MUTATION IN THE LAMININ ALPHA-2 (LAMA2) GENE

The classic murine muscular dystrophy strain, dy, was first described almost 40 years ago. We have identified the molecular basis of an allele of dy, called dy(2J), by detecting a mutation in the laminin alpha 2 chain gene - the first identified mutation in laminin-2. The G to A mutation in a splice site consensus sequence causes abnormal splicing and expression of multiple mRNAs. One mRNA is translated into an alpha 2 polypeptide with a deletion in domain VI. The truncated protein apparently lacks important qualities of the wild type protein and is unable to provide sufficient muscle stability.