Fig. 1

Construct similarities in Df(h1q21)/+ mice and human 1q21.1 deletion carriers. a Overview of the deleted region in man (1q21.1) and the corresponding orthologous region in mouse (3qF2.2). The mouse deletion spans from a breakpoint upstream of exon 11 of the Gpr89 gene and a breakpoint downstream of exon 7 of the Prkab2 gene (see Supplement 1 for details). The lists are based on the human library GRCh38/hg38 and the mouse library GRCm38/mm10 from the UCSC database. Only annotated RefSeq genes are shown. b mRNA expression changes in tissue from frontal cerebral cortex measured by microarray in 14-week-old Df(h1q21)/+ mice compared with their wild-type littermates. The number of genes tested upstream and downstream of the deletion was increased until transcripts could be detected. Gja8 and Cd160 were below the detection limit in wild-type mouse brain. n = 6 Df(h1q21)/+ and 12 wild-type littermates. Data presented as median ± SEM. ^*** p < 0.001 following t-test with Welch’s correction of gene expression in Df(h1q21)/+ compared to wild-type mice. c Head-to-tail base length. n = 233–235 mice/group. Data presented as means ± SEM. ^*** p < 0.001 following Mann–Whitney test. ^** p < 0.01