Figure 2.

The INPP5E mutation interferes with telencephalic marker gene expression

Control and INPP5E^D477N/D477N organoids were immunostained with the indicated markers.

(A and B) The telencephalon marker FOXG1 was expressed in organoids of both genotypes.

(C–F) The dorsal aRGC markers PAX6 (C and D) and EMX1 (E and F) were expressed in control, but not in mutant, organoids.

(G and H) TBR2-labeled basal progenitor cells that were largely absent in INPP5E^D477N/D477N organoids.

(I–L) Expression of the cortical neuron markers TBR1 and CTIP2 was largely absent in mutant organoids.

(M–R) Expression of the ventral telencephalic progenitor markers GSX2 (M and N), DLX2 (O and P), and OLIG2 (Q and R) in mutant, but not in control, organoids. ISL1/2 labeling spiny medium interneurons was detected in INPP5E mutant organoids (Q and R).

(S–X) Expression analyses of the ventral telencephalic interneuron markers NKX2.1 (S and T), COUPTFII (U and V), and SST (W and X).

Scale bars, 100 μm (A) and 50 μm (B). See also Figure S3.