Fig. 5 |. SPTBN1 variants affect neuronal axonal growth, AIS morphology and organelle transport.

a, Axonal length of DIV8 neurons (n = 12–34 neurons/genotype) from three experiments. Data represent mean ± SEM. One-way ANOVA with Tukey’s multiple comparisons test, ****P < 0.0001. Orange and blue lines indicate average length of βII-SpWT and βII-SpHet axons, respectively. b, Images representative of three independent experiments show AnkG clustering at the AIS. Scale bar, 10 μm. c, AIS length (n = 10–80 neurons/genotype) compiled from three experiments. Data represent mean ± SEM. d, Kymographs of RFP-LAMP1 motion in axons. Trajectories are shown in green for anterograde, red for retrograde, and blue for static vesicles. Scale bar, 10 μm and 60 s. e, Percent of motile axonal LAMP1-RFP cargo. f,g, Quantification of the anterograde and retrograde velocity (f) and distance traveled (g) of LAMP1-RFP cargo. For e-g the box plots show all data points from minimum to maximum. Boxes represent data from the lower (25^th percentile) to the upper (75^th percentile) quartiles. The box center corresponds to the 50th percentile. The median is indicated by a horizontal line. Whiskers extends from the largest dataset number smaller than 1.5 times the interquartile range (IQR) to the smallest dataset number larger than 1.5IQR. Data was collected in n=9–13 axons from three independent experiments. Data in c and e–g were analyzed by one-way ANOVA with Tukey’s (c) and Dunnett’s (e–g) post hoc analysis tests, *P < 0.05, **P < 0.01, ***P < 0.001, ****P < 0.0001. See statistics summary in Source Data Figure 5.