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| Caption | Vacuolar myopathy in gastrocnemius muscle from Cacna1stm1.1Cann/Cacna1stm1.1Cann (R528Hm/m) mice. (A) Transverse 10-um cryostat sections stained with H&E and NADH-TR demonstrated small, optically clear central vacuoles (arrows) in homozygous mutant mice fibers. Longitudinal 1.5-um sections of resin-embedded fibers stained with toluidine blue show the linear extent of the vacuoles. Vacuolar changes were not detected by light microscopy in wild-type (WT) or heterozygous (R528H+/-) fibers. Scale bars: 100 um. (B) Ultrastructural studies from gastrocnemius muscle showed large, well-demarcated vacuoles with disruption of the triad junction in homozygous fibers. Some vacuoles were continuous, with membrane-lined protuberances oriented transversely to the fiber axis (arrow, bottom right), suggesting that the vacuoles were dilated transverse tubules. Other sections showed large vacuoles at the normal position of the junctional SR, suggesting dilation of the sarcoplasmic reticulum as well. A lower-magnification EM image demonstrates that the vacuolar changes were extensive, with a substantial portion of sarcomeres being affected in homozygous muscle (bottom left). Rare, mildly dilated cisternae of the sarcoplasmic reticulum were observed in heterozygous muscle, although no large vacuoles were observed of the type present in homozygous fibers. No ultrastructural abnormalities were present in the WT muscle. Scale bars: 2 um. | ||||||
| Copyright | This image is from Wu F, J Clin Invest 2012 Dec 3;122(12):4580-91 and is displayed with the permission of the American Society for Clinical Investigation who owns the Copyright. J:193967 | ||||||
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Associated Alleles |
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Associated Genotypes |
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/16/2024 MGI 6.23 |
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