Complex structural variations (SVs) accompanying transgenic insertions. (A) Schematic of the SV accompanying the Wnt1-cre2 [Tg(Wnt1-cre)2Sor] transgene insertion. The locus includes a large duplication with a partial deletion that accompanies the transgene insertion. The entire duplicated interval is inverted and is inserted into exon 5 of the E2f1 gene. The red triangles identify the extent of the entire SV that is inverted, the blue bars indicate the insertion site of the transgene and the extent of the deletion within the duplicated fragment, and the orange bars indicate the location of the SV insertion. qPCR probes are indicated on the WT locus. The qPCR probe for E2f1 exon 5 spans the breakpoint of SV insertion. Confirmation of each fusion fragment that defines the SV by PCR-Sanger sequence is illustrated. (B) LOA confirmation of the expected copy number for each gene/exon affected by the SV.
