Fig. 1
Generation of a heterozygous Clcn2R180Q/+ mouse model. a Alignment of human and mouse protein and genomic sequence surrounding human Arg172 that is commonly mutated in FH-II. b Representation of the mouse Clcn2 locus with the targeted codon on exon 5. Sequence of gRNA to target the Cas9 nuclease to exon 5 of the mouse Clcn2 gene is shown below the wildtype sequence. The PAM is underlined. The mutation is introduced by homology-directed repair using a donor oligonucleotide (oligo), with the mutant codon shown in bold letters. c Sanger sequences of a Clcn2R180Q/+ mouse and a WT control. d Sanger sequences of adrenal cDNA from a Clcn2R180Q/+ mouse and a WT control. gDNA, genomic DNA
