Abstract
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 dy2J, by detecting a mutation in the laminin α2 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 α2 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.
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Xu, H., Wu, XR., Wewer, U. et al. Murine muscular dystrophy caused by a mutation in the laminin α2 (Lama2) gene. Nat Genet 8, 297–302 (1994). https://doi.org/10.1038/ng1194-297
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DOI: https://doi.org/10.1038/ng1194-297
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