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Figure 4 Overexpression of NEUROD2 in Xenopus laevis suggests patient variants are dysfunctional. (A) Normal neuronal -tubulin expression in a stage 28 wild-type X. laevis embryo. Expression extends along the neural tube, from the anterior/posterior axis on the dorsal side of the tadpole. Strong expression is also seen in the brain and eye. (B) Overexpression of wild-type NEUROD2 in X. laevis results in varying degrees of ectopic neuronal induction. Severe induction (top image) is categorised by ectopic neurons extending down the full length of the anterior/posterior axis of the tadpole, with signal at least halfway down the side of the tadpole, extending dorsally to ventrally. Mild induction (bottom image) is classified by showing ectopic neuronal induction but not meeting severe parameters (ie, neuronal -tubulin signal not extending down the length of the anterior/posterior axis and/or not extending at least halfway down dorsally/ventrally. (C) 1250pg of human NEUROD2 (wild-type, p.M134T and p.E130Q) mRNA was injected in one of two cells at the two-cell stage of X. laevis embryos, and ectopic neuron induction severity was categorised as severe, mild or none. NEUROD2, neuronal differentiation factor 2.

Image published in: Sega AG et al. (2019)

Copyright © 2019. Image reproduced with permission of the Publisher.

GeneSynonymsSpeciesStage(s)Tissue
tubb3beta-tubulin III, LOC108715419, tubulin beta3X. tropicalisThroughout NF stage 28brain
eye
neural tube
cranial placode

Image source: Published

Experiment + Assay Source Phenotypes and Disease
Xla Wt + Hsa.NEUROD2 + NF28 (in situ hybridization) Fig. 4 B
Anatomical Phenotype
abnormally increased number of neuron

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