Fig. 1
hGFAP-cre::CBPFl/Fl CBP deficient mice exhibit abnormal behavior and a decrease in brain volume corresponding well with findings in brain MR images from RSTS patients. a In hGFAP-cre::CBPFl/Fl mice, CBPStop523 is expressed in cells that express the cre-recombinase under the hGFAP promoter. CBPStop523 does not contain the KAT domain. LoxP: Cre-recombinase recognition and incision site, KAT: Lysine acetyltransferase domain. b1–5 Open field test: tracked mouse movements in the open field test for one representative control and mutant animal. Movement analysis shows that transgenic mice spend significantly less time in the center and show significantly less vertical activity. c1–3 Dark/light box test: hGFAP-cre::CBPFl/Fl mice spent significantly less time exploring the bright chamber and transitioned less often between the two compartments. d1–6 Representative coronal T2 weighted brain MR images of transgenic and control animals with arrows marking the hypoplastic hippocampus and the widened lateral ventricle in the mutant. Volumetric analysis unveiled significantly reduced brain volume, OB size, CC volume and hippocampus size after early loss of CBP. e1-6 Sagittal T2 and T1 weighted and axial T2 weighted MR images of a RSTS patient and age-matched control child. Microcephaly and a smaller brain are noted for the RSTS patient. CC length- and thickness measurements as well as anterior-posterior & left-right diameter measurements displayed as red arrows.e7-8 Paramedian anterior-posterior diameter and the anterior left-right diameter were significantly reduced in RSTS patients. e9-10 Thickness of the CC genu is significantly reduced in RSTS patients. *p < 0.05, **p < 0.01, ***p < 0.001