| 13400 | P54265 | DMPK_MOUSE | Myotonin-protein kinase (MT-PK) (EC 2.7.11.1) (DM-kinase) (DMK) (DMPK) (Myotonic dystrophy protein kinase) (MDPK) | DISRUPTION PHENOTYPE | Mice are fertile and no negative selection against the absence of the protein is apparent. Newborn do not display hypotonia, respiratory distress or gross anatomical abnormalities. However, a progressive muscle weakness a hall mark of myopathies is observed. Muscles from mature mice show variation in fiber size, increase fiber degeneration and fibrosis. They also display age-related progression in atrioventricular conduction defects that are reminiscent of congenital myotonic dystrophy. {ECO:0000269|PubMed:10936001, ECO:0000269|PubMed:8673132}. |