Ppt1^A179T mutants show no paralysis at elevated temperatures.

Synaptic development appears normal in Ppt1^A179T mutants.

Evoked excitatory junction potentials (EJPs) in Ppt1^A179T mutant larval neuromuscular junctions (NMJs) decline in a similar fashion to those in wild-type, but continue to decline with the repetitive stimulation. After 180 s of 10 Hz stimulation, the EJPs are noticeably smaller than the wild-type EJPs. The evoked EJP amplitudes are significantly different from those in wild-type for the last full minute of 10 Hz stimulation. Recovery of EJP amplitudes at Ppt1^A179T synapses is compromised, reaching approximately 62% of the baseline response, which is significantly different from the wild-type response.

Ppt1^A179T synapses show a significant reduction (about 40%) in fluorescent endocytic tracer uptake, indicating that there is a defect in endocytosis at the NMJ.

Ppt1^A179T mutant larvae have locomotion defects. The mutants exhibit significantly shorter average locomotor path lengths compared with those of wild-type larvae.

Ppt1^A179T mutant embryos display an abnormal complement of eve-positive neural precursors and neurons at stage 11/12. Many hemisegments exhibit a variety of phenotypes including the loss of GMC4.2a, extra RP2/sib neurons, disorganised eve+ clusters, and extra aCC/pCC cells. Later in development at stages 14-15 loss of eve+ RP2s is observed in a small, but significant, percentage of hemisegments. In many Ppt1^A179T stage 16 mutant embryos, the RP2 neurons exhibit abnormal axon trajectories and these embryos also show loss of either aCC or pCC neurons in many hemisegments.

Ppt1^A179T mutant stage 17 embryos show mild to severe CNS axon guidance defects; defects range from mild phenotypes such as irregularly spaced axon tracts in commissures and wavy, thinning longitudinal connectives, to more severe phenotypes such as fused commissures and disorganized CNS tracts. Disruption is seen to the Fas2-positive longitudinal connectives with phenotypes varying in severity from loose and defasiculated connectives to ectopic midline crossing.

Chordotonal neurons (lch5) in the developing PNS are abnormal in many Ppt1^A179T mutant stage 17 embryos. Defects include a decreased number of sensory neurons, fused and abnormally shaped neurons, organisational and positional defects and thin axon bundles. No detectable difference is seen in the axon projections in the l, v and v' neuron clusters.

Ppt1^A179T/Ppt1^S77F mutant embryos display an abnormal complement of eve-positive neural precursors and neurons at stage 11/12. Many hemisegments exhibit a variety of phenotypes including the loss of GMC4.2a, extra RP2/sib neurons, disorganised eve+ clusters, and extra aCC/pCC cells. Later in development at stages 14-16 loss of eve+ RP2s is observed in a small, but significant, percentage of hemisegments.

At stages 14-15, Ppt1^A179T/Df(1)446-20 mutant embryos exhibit loss of eve+ RP2s is observed in a small, but significant, percentage of hemisegments.

While endocytosis and endo-lysosomal trafficking does occur in Ppt1^A179T mutant garland cells, there is a reduced level of uptake and a decreased rate of trafficking to the lysosomes.

Ppt1^A179T mutant garland cells show distended and highly vacuolarized labyrinthine channels.

Ppt1^A179T/Df(1)446-20 and Ppt1^A179T/Ppt1^S77F flies accumulate abnormal storage material as laminar deposits in their brains.

Ppt1^A179T/Df(1)446-20 and Ppt1^A179T/Ppt1^S77F flies have more abundant autofluorescent inclusions in the brain than control flies.

The median lifespan of Ppt1^A179T/Df(1)446-20 and Ppt1^A179T/Ppt1^S77F flies is reduced 37 and 20% respectively compared to controls.

The median lifespan of Ppt1^A179T hemizygotes is reduced 21% compared to controls.