Skip to main content
Fig. 3 | Genome Medicine

Fig. 3

From: Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

Fig. 3

dAtad3a lof, F56L, G242V, and R333P variants lead to severe neurodevelopmental defects. a Confocal micrographs of wild-type (w1118), dAtad3a-null mutant embryos and those expressing dAtad3aWT, dAtad3aF56L, dAtad3aG242V, and dAtad3aR333P. Elav (green)-stained neurons and anti-HRP (red)-stained neuronal membranes. Br indicates brain, and VNC indicates ventral nerve cord. Arrowheads indicate shrunken and twisted VNC. Arrows indicate misguided and loss of neurons in the PNS. Scale bars indicate 100 μm. b Quantification of CNS and PNS phenotypes shown in mutant embryos. The numbers of embryos for these analyses are as follows: CNS—w1118 (n = 54), wt (n = 58), null (n= 96), F56L (n = 53), G242V (n = 71), and R333P (n = 60). PNS—w1118 (n = 51), wt (n = 52), null (86), F56L (n = 52), G242V (n = 59), and R333P (n = 44)

Back to article page