| First Author | Xu H | Year | 1994 |
| Journal | Nat Genet | Volume | 8 |
| Issue | 3 | Pages | 297-302 |
| PubMed ID | 7874173 | Mgi Jnum | J:21367 |
| Mgi Id | MGI:69355 | Doi | 10.1038/ng1194-297 |
| Citation | Xu H, et al. (1994) Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene. Nat Genet 8(3):297-302 |
| abstractText | 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. |
