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Phenotypes Associated with This Genotype
involves: C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
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phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• while evoked compound muscle action potentials (CMAPs) are always single responses in controls, single nerve stimuli result in repetitive CMAPs in mutants; in about half the mice a total of three action potentials are seen
• mice show increased sensitivity to the neuromuscular blocker curare, developing marked decremental responses to repetitive stimulation at both 5 and 10 Hz compared to controls which show an average decrement of less than 1%
• the mean time constant of decay of end-plate currents (EPCs) evoked by phrenic nerve stimulation is about 3-fold prolonged compared to controls
• miniature end-plate currents (MEPCs) have prolonged decay phases
• a greater proportion (25% vs 6%) of MEPCs have bi-exponential decays than in controls indicating increased duration of synaptic currents
• the mean MEPC amplitudes are reduced by a mean of 33%

• muscle fibers, end-plates, nerve terminals and terminal arbors appear normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital myasthenic syndrome 3A DOID:0110666 OMIM:616321

Contributing Projects:
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
MGI 6.20
The Jackson Laboratory