Phenotypes Associated with This Genotype

Genotype
MGI:6389106

• Allelic Composition: Rapsn^em1Gan/Rapsn^tm1Jrs
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

nervous system

abnormal synaptic bouton morphology ( J:282816 )

• axon terminals are extensively arborized, with increased numbers of secondary, tertiary, quaternary branches, in the diaphragm

abnormal neuromuscular synapse morphology ( J:282816 )

• diaphragms from P0 mice show dramatically reduced number and size of acetyl choline receptor clusters

abnormal miniature endplate potential ( J:282816 )

• miniature endplate potentials (mEPP) are seen in fewer muscle fibers than in wild-type

• mEPP amplitudes and frequencies are reduced in muscle fibers