Distal deficiency breakpoint is within the first intron sequences.
The amplitude of glutamate-gated currents is reduced in mutant embryos compared to wild-type (737 +/- 202 pA compared to 1691 +/- 71 pA), when glutamate is pressure-ejected onto the postsynaptic neuromuscular junction. Single-channel current amplitude of postsynaptic glutamate receptors is not different from wild type in the mutant embryonic neuromuscular junction. The amplitude of spontaneous excitatory junctional currents is significantly reduced in the mutant embryonic neuromuscular junction compared to wild type (84 +/- 9 pA compared to 141 +/- 14 pA).