Fig. 1
A, B UBAP1 gene and protein structure, and predicted effects on the protein structure of the mutation in our UBAP1+/E176Efx23 knock-in mouse model. The locations of the mutations in our patient (c.535 G > T, p.E179*) and the model mouse (c.527dupA, p.E176Efx23) we created are shown. The locations of the PCR primers used to screen for the presence of the targeted mutation are salso hown (black arrow). C Sanger sequencing results for wild-type mice and Ubap1+/E176Efx23 knock-in mice. The mutation of c.527dupA (red arrow) was detected in Ubap1+/E176Efx23 knock-in mice, while no mutation was detected in wild-type mice
