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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 
 

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 dy2J, 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.[1]

References

  1. Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene. Xu, H., Wu, X.R., Wewer, U.M., Engvall, E. Nat. Genet. (1994) [Pubmed]
 
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