Amino acid replacement: Y364N. Residue is in a highly conserved sequence within the second C2 domain.
T2785667A
T?A
Y364N | Syt1-PA; Y362N | Syt1-PB; Y362N | Syt1-PC; Y362N | Syt1-PE; Y363N | Syt1-PH; Y362N | Syt1-PI
Y364N
No asynchronous release following stimulation of the neuromuscular junction is seen in sytAD3/sytN13 mutants. The quantal content of synchronous release is reduced more than 10-fold, although the Ca2+ cooperativity is not altered compared to wild type. The total number of vesicles release during repetitive stimulation at the sytAD3/sytN13 neuromuscular junction is reduced approximately twofold compared to wild type, but the quantal content is reduced more than 10-fold. The frequency of spontaneous miniature synaptic currents at the embryonic sytAD3/sytN13 neuromuscular junction is not increased compared to wild type. The quantal content of nerve evoked release at the neuromuscular junction is reduced in heterozygotes compared to controls.
A few sytAD3/Df(2L)DTD2 animals survive to adulthood. sytAD4/sytAD3 first larval instar nerve terminals contain fewer synaptic vesicles compared to wild-type and larger vesicles are more numerous in the mutant nerve terminals. The number of synaptic vesicles within 200nm of the presynaptic membrane is markedly reduced.
Sluggish crawling and feeding behaviour. Larvae do not grow or moult as wild type larvae would, and die after a week (at 18oC).
Syt1AD3 is partially rescued by Syt1elav.PD
Lethality can be rescued by sytelav.PD. Rescued flies that emerge are lethargic and show an electrophysiological deficit due to insufficient syt. A second copy of sytelav.PD improves viability and motor activity. ERGs of mutants carrying one copy of sytelav.PD lack both on- and off-transients suggesting a disruption in synaptic communication. In mutants the evoked neurotransmitter release is decreased and spontaneous release in increased (intracellular recordings made from muscle 6).
Mutant phenotype cannot be rescued when homozygous but can when in trans to sytN6 by sytelav.PD.