Fig. 3

Muscle pathology is striking in ~ 10 month old MATR3^WT (lead line 1563) and MATR3^F115C (lead line 1576) transgenic mice. H&E of gastrocnemius at ~ 2 months of age from a NT, b MATR3^WT, and c MATR3^F115C mice (lines noted on figure). Both the MATR3^WT and MATR3^F115C mice showed modest, early vacuolation in the fibers (arrow). H&E of the gastrocnemius at ~ 10 months of age from d NT, e MATR3^WT and f MATR3^F115C mice. Both MATR3^WT and MATR3^F115C mice showed striking pathology including vacuoles (arrow), internalized nuclei (arrow head), and rounded fibers (asterisks). MATR3 immunohistochemistry of the gastrocnemius at ~ 2 months of age from g NT, h MATR3^WT, and i MATR3^F115C. Both MATR3^WT and MATR3^F115C have increased immunostaining of MATR3 in the nucleus. MATR3 immunohistochemistry of the gastrocnemius ~ 10 months of age showed that compared to j NT mice, k MATR3^WT and l MATR3^F115C mice showed much more intense immunostaining of the nucleus, as well as robust cytoplasmic staining of MATR3. Scale bar measures 25 μm