Fig. 1.

Generation of transgenic human NOTCH3 mice. a Schematic representation of the BAC construct containing the human NOTCH3 gene and flanking regions, used for generation of tgN3^WT and tgN3^MUT (c.544C > T, p.Arg182Cys) mice. b Sequencing analysis of PCR products of the human NOTCH3 gene in transgenic mice confirmed the presence of the c.544C > T mutation in tgN3^MUT mice. c qPCR analysis of human and mouse NOTCH3 expression in brain. In strain tgN3^WT, human NOTCH3 expression was comparable to endogenous mouse Notch3 expression. The four mutant strains showed human NOTCH3 expression levels of 350, 200, 150 and 100 %, as compared to endogenous mouse Notch3 expression. Endogenous mouse Notch3 expression was comparable between the transgenic mouse strains