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. Author manuscript; available in PMC: 2015 Apr 7.
Published in final edited form as: Mol Psychiatry. 2014 Jul 29;20(4):459–471. doi: 10.1038/mp.2014.69

Figure 1. Microcephaly with normal cortical structures in PQBP1 patients and nestin-Cre Pqbp1-cKO mice.

Figure 1

(A–C) Magnetic resonance imaging of a PQBP1-mutated patient showed normal cortical structures with no periventricular heterotopia: (A) horizontal, (B) coronal, (C) sagittal sections.

(D) Macroscopic images of the brain at the age of 2 months. Male nestin-Cre Pqbp1-cKO mouse brains (Nes-Cre; XFloxY) were consistently the smallest among the littermates.

(E) Pqbp1-cKO mice showed reduction of brain weight at 2 months. The bar graph shows the mean + S.E.M for each genotype with the number of mice used indicated above. The mean and S.E.M values are provided in the text. Asterisks indicate significance (p < 0.01) in one way ANOVA with post hoc Bonferroni test.

(F) Macroscopic images of the brain at the age of 2 months. Male synapsin 1-Cre Pqbp1-cKO mouse brains (synapsin1-Cre; XFloxY) were not different from the littermates in size.

(G) The brain weight of the male synapsin-1-Cre Pqbp1-cKO mouse was not different from that of the background control.

(H) Coronal sections of adult brains of nestin-Cre Pqbp1-cKO mouse and littermates (2 months, at −1.82 mm from the bregma in background mice).

(I) Staining for layer-specific markers, Cux1, Foxp1, and Tbr1, together with GAD67, shows preservation of cortical layers in Pqbp1-cKO mice at 2 months.