Fig. 2: Screening analysis of known phenotypes in Ep400-p.P2715L mice. | Translational Psychiatry

Fig. 2: Screening analysis of known phenotypes in Ep400-p.P2715L mice.

From: A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models

Fig. 2

a Body weight of Ep400-p.P2715L#1 mice and their WT littermates (p.P2715L#1 mice: n = 6, WT: n = 6). There was no significant difference in body weight in adult mice. b Genotype and hindlimb clasping. Sanger sequencing was used to confirm the missense mutation (p.P2715L, red arrow) and synonymous mutation to break the protospacer adjacent motif (PAM; green arrow) in Ep400. Hindlimb clasping (yellow arrow) was used as a marker of CNS dysfunction (p.P2715L#1 mice: n = 6, WT: n = 6). c In a low-power field, there was no obvious differences in KB-stained tissue between 3-month-old Ep400-p.P2715L#1 mice and their WT littermates. Ep400-p.P2715L#1 mice showed a decrease in axon diameters in the spinal marrow by both KB and TB staining in a high-power field. Ep400-p.P2715L#1 mice did not show any morphological abnormalities in myelin sheaths in the TEM analysis (p.P2715L#1 mice: n = 2, WT: n = 2). KB/L = Klüver–Barrera staining, in a low-power field. KB/H = Klüver–Barrera staining, in a high-power field. TB = Toluidine blue staining. Yellow scale bar = 200 µm. White scale bar = 50 µm. Green scale bar = 10 µm. Red scale bar = 1 µm. d TEM analysis was used to compare axon diameters and G-ratios between Ep400-p.P2715L#1 and WT mice. A significant decrease in axon diameter in Ep400-p.P2715L#1 mice was confirmed by TEM analysis. Ep400-p.P2715L#1 mice did not show significant differences in G-ratios compared with their WT littermates (p.P2715L#1 mice: n = 2, WT: n = 2).

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