Fig. 1: Pqbp1Y65C/Y mice exhibit short stature, and microcephaly. | Nature Communications

Fig. 1: Pqbp1Y65C/Y mice exhibit short stature, and microcephaly.

From: The missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effects

Fig. 1: Pqbp1Y65C/Y mice exhibit short stature, and microcephaly.

a General appearance of WT and Pqbp1Y65C/Y mice at P0. Scale bar, 1 cm. b Quantification of body weight for (a). WT: n = 13 littermate wild-type male mice, Y65C: n = 13 Pqbp1Y65C/Y male mice, p < 0.0001. c General morphology of the brains in WT and Pqbp1Y65C/Y mice at P0. The white dotted line represents the cortical area. Scale bar, 2 mm. d Quantification of the brain weights for (c). n = 12 mice in each group, p < 0.0001. e Quantification of the area of the cortex for (c). n = 10 mice in each group, p < 0.0001. f Immunofluorescence staining shows the overall morphology of the cortex at P0. Scale bar, 500 μm. n = 3 biologically independent experiments. g Representative images of WT and Pqbp1Y65C/Y mice cortex stained for Tbr1, Ctip2, Brn2 and DAPI at P0. Scale bar, 100 μm. h, i Quantification of the thickness of cortex (VZ and SVZ are not included) and the thickness (white two-way arrows in g) of Tbr1+, Ctip2+, Brn2+ neurons for (g). n = 9 mice in each group, Thickness: p = 0.0331; Tbr1 + : p = 0.0028; Ctip2 + : p = 0.0076; Brn2 + : p = 0.0137. j Quantification of the proportion of neurons in each layer of the brain for (g). All quantification data are represented as mean ± SD. b, d, e, h, and i, a two-tailed unpaired Student’s t test. *p ≤ 0.05; **p ≤ 0.01; ****p ≤ 0.0001. Source data are provided as a Source Data file.

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