Fig. 1

Mouse neuroanatomical studies for the identification of NAP genes at the 16p11.2 autism-associated locus. A Schematic representation of the human 16p11.2 region showing gene content and order with genes that underwent mouse neuroanatomical studies in red. B At bregma + 0.98 mm and bregma − 1.34 mm, 22 and 45 parameters were measured, respectively. C These 67 parameters (listed in Additional file 2: Table S2) are grouped into five categories (brain size, ventricle, cortex, commissure, and subcortex) on the two coronal sections. D Bar plots of the percentage change of male Del/+ relative to male WT mice for each of the parameters measured. The colored region indicates the presence of a significant parameter at the 0.05 level. White indicates a p-value > 0.05. E Bar plots of percentage change of female Del/+ relative to female WT. F Left: representative brain image stained with Nissl-luxol of adult male WT and Del/+ mice showing the cortical layers of the somatosensory cortex at bregma − 1.34 mm. Right: histograms showing the thickness of the upper and lower layers of the somatosensory cortex in male Del/+ mice. G Histograms showing the thickness of the upper and lower layers of the cortex in female Del/+ mice. H Venn diagram illustrating NeuroAnatomical Phenotype (NAP) genes (genes whose mutations yield neuroanatomical phenotypes) in male mice positioned in each category. Phenotypic directionality is color-coded. Blue corresponds to a reduction in the size of the brain regions affected, red to increase, and yellow occurring of both. I, J Bar plots showing the number of NAPs per section (bregma + 0.98 mm in orange and bregma − 1.34 mm in blue) for each gene assessed for male (I) and female (J), respectively. Genes are listed on the x-axis and sorted according to the number of NAPs