Phenotypes Associated with This Genotype

Genotype
MGI:2176869

• Allelic Composition: Dtna^tm1Jrs/Dtna^tm1Jrs
• Genetic Background: involves: 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

muscle

myocardial fiber degeneration ( J:59675 )

• degeneration of myocytes

cardiomyopathy ( J:59675 )

• 61% exhibit mild cardiomyopathy at 1 month, including mononuclear-cell infiltration and fibrosis, associated with plaques that are scattered through both ventricles, however hearts are not dilated or hypertrophic

dystrophic muscle ( J:59675 , J:60776 )

• develop mild skeletal dystrophy by 1 month of age; see small groups of degenerating myofibers and infiltrating monocytes (J:59675)

• the diaphragm is the most severely affected skeletal muscle (J:59675)

• muscle fibers are less structurally compromised than in Dmd^mdx mice and appear to maintain the dystrophin-containing glycoprotein complex (J:59675)

• about 40% of fibers are dystrophic (J:60776)

cardiovascular system

myocardial fiber degeneration ( J:59675 )

• degeneration of myocytes

cardiac fibrosis ( J:59675 )

cardiomyopathy ( J:59675 )

• 61% exhibit mild cardiomyopathy at 1 month, including mononuclear-cell infiltration and fibrosis, associated with plaques that are scattered through both ventricles, however hearts are not dilated or hypertrophic

nervous system

abnormal neuromuscular synapse morphology ( J:60776 )

• distribution of acetylcholine receptors within synapse branches is abnormal, with a patchy or granular distribution, however movement is normal

• derangement of the postsynaptic membrane, with a 50% reduction in the density of junctional folds and altered distribution of electron-dense material

• postsynaptic apparatus is fragmented into discrete boutons

behavior/neurological

impaired coordination ( J:106640 )

• single knockout mutants perform more poorly than controls but better than double knockouts with Dtnb^{Gt(OST109050)Lex}

decreased grip strength ( J:106640 )

• single knockout mutants perform more poorly than controls but better than double knockouts with Dtnb^{Gt(OST109050)Lex}