Phenotypes Associated with This Genotype

Genotype
MGI:2176888

• Allelic Composition: Dtna^tm1Jrs/Dtna^tm1Jrs; Utrn^tm1Jrs/Utrn^tm1Jrs
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

muscle

cardiomyopathy ( J:59675 )

• mild cardiomypathy

dystrophic muscle ( J:59675 )

• exhibit a mild skeletal dystrophy that is similar to that of single homozygous Dtna mice

cardiovascular system

cardiomyopathy ( J:59675 )

• mild cardiomypathy

nervous system

abnormal neuromuscular synapse morphology ( J:60776 )

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

• subset of synapses (20-30%) are more severely disrupted than in single Dtna mutants, with the normal branching morphology of acetylcholine receptors replaced with coarse striations radiating in a zebra stripe-like pattern

• almost complete lack of junctional folds in the postsynaptic membrane

• cultured myotubes show defects in acetylcholine clustering