Fig. 1: Generation of genome-edited mice carrying the G2^R398W mutation.

a Schematic illustration of genome editing patterns and locations. b Genomic DNA sequences of two independent founder mice at the targeted region of the Gata2 gene. The signal peaks of the original cytosine (blue) and substituting thymine (red) overlap at position c.1192. c PCR-based genotyping strategy of the G2^R398W allele containing the substituted nucleotide. c.1192C>T in the 6th exon is indicated as a red line. Positions recognized by the forward and reverse primers are indicated as arrowheads. d, e Dot plots and mean values for Gata2 transcripts expressed in LSK cells (d) and in subpopulations of LSK cells (e). A primer set detecting transcripts originating from both intact and mutated alleles was used. f Dot plots and mean values for mutated Gata2 transcripts expressed in LSK cells, which were detected using a mutated allele-specific primer set. Number of mice are indicated in parentheses. **p < 0.01. g Immunoblot analysis using nuclear extracts from bone marrow cells. Four independent mice of each genotype were used. Cell extracts from original and murine GATA2-expressing HEK293T cells were used as negative (NC) and positive (PC) controls, respectively. The levels of GATA2 were evaluated by comparing the signal intensity with that of Lamin B. The average value of GATA2 in G2^+/+ mice was set to 1.0. The average and individual relative values of GATA2 in individuals are shown in the right panel. *p < 0.05.