Fig. 2: Physical characteristics and histopathological analysis of 3q29-del mice.

a Sperm from mature 3q29-del males were artificially inseminated with oocytes from the C57BL/6J strain and implanted into sham-pregnant ICR strains. The pups were weighed every other week from 3 to 7 weeks of age, respectively. The Mann–Whitney U test showed significant differences in the weights of pups of both sexes and at all ages. b HE staining in the sagittal section of the brain of 16-week-old 3q29-del. c The immunoblot analysis for the quantification of 3q29-del brain apoptosis. Several areas of the adult brains were isolated under a stereomicroscope and prepared as total tissue lysate. Subsequently, 20 μg of protein was applied into each well. Cleaved PARP were detected using the apoptosis western blot cocktail. β-Actin was co-detected as an internal control. d For each brain region, the ratio of the signal intensity of cleaved PARP corrected for 3q29-del β-actin to WT was calculated and tested using the Mann–Whitney t-test. e, f TUNEL staining of the sagittal sections of the adult 3q29-del and WT mice. TUNEL-positive signals in the hippocampus (e) and cortex (mainly primary somatosensory cortex) (f) were measured and compared in terms of the number of signals per millimeter square. g The sagittal sections of the brains of the 3q29-del and WT mice immediately after birth were stained with TUNEL. Moreover, the TUNEL signals in the hippocampal and cortical regions were measured, and the number of signals per millimeter square was compared between the 3q29-del and WT mice. The bar indicates 200 μm. All TUNEL assays were tested for significance using the Mann–Whitney t-test.