Fig. 1

Generation of Del(1.4 Mb)/+ and Del(1.5 Mb)/+ mice. a Schematic diagram showing the mouse chromosome 16qA13 that is syntenic region of human chromosome 22q11.2. Green boxes represent low copy repeats (LCRs). Each black square represents one gene which is conserved between human and mouse. Pink squares represent non-conserved genes. Blue, red, and green horizontal bars indicate the human hemizygous genomic deletions (3.0-Mb, 1.5-Mb and 1.4-Mb, respectively) and syntenic mouse genomic regions [Del(3.0 Mb)/+, Del(1.5 Mb)/+ and Del(1.4 Mb)/+]. b Schematic illustration of wild-type (WT) and Del(1.4 Mb)/+ alleles. Green arrows, sgRNA sites; pink bars, bridging single-stranded oligodeoxyribonucleotides (ssODNs); gray squares, Pi4ka exons; white squares, Dgcr2 exons; black arrowheads, PCR primers; dashed line, deleted region in the Del(1.4 Mb)/+ allele. c Schematic illustration of WT and Del(1.5 Mb)/+ alleles. Green arrows, sgRNA sites; pink bars, bridging ssODNs; white squares, Dgcr2 exons; black squares, Hira exons; black arrowheads, PCR primers; dashed line, deleted region in the Del(1.5 Mb)/+ allele. d A representative result of genotyping PCR analysis of Del(1.4 Mb)/+ founder candidates. P.C., positive control. e Genotyping analysis of N1 offspring of Del(1.4 Mb)/+ founder × WT crossing. f A representative result of genotyping PCR analysis of Del(1.5 Mb)/+ founder candidates. P.C., positive control. g Genotyping analysis of N1 offspring of Del(1.5 Mb)/+ founder × WT crossing. h The nucleotide sequencing analysis of PCR-amplified fragments around the deletion junction in Del(1.4 Mb)/+ founder candidates. sgRNA sites are indicated in bold and protospacer adjacent motif (PAM) sites in red. A mismatch nucleotide is indicated in blue. The expected sgRNA-guided cutting sites are indicated by pink arrows. i Deletion junction sequences of Del(1.5 Mb)/+ founder candidates. sgRNA sites are indicated in bold and PAM sites in red. The expected sgRNA-guided cutting sites are indicated by pink arrows