Figure 3 .

HDR-mediated genome editing to establish Ehd1 and Macf1 mutant mouse lines. (A) Sequences of Ehd1 mutant mice. 1-bp deletion of G modeling the de novo mutation of the patient was introduced in the exon 5 of Ehd1. Sequence of ssODN utilized that of the strand in which PAM sequence exists. PAM, proto-spacer adjacent motif. (B) Western blot for EHD1 in the hippocampus of Ehd1 mutant mice. The truncated protein was caused by the mutant allele of the heterozygous Ehd1 mutant mice. (C) sequences of Macf1 mutant mice. 1 bp insertion of C was introduced in the exon 1 of the minor isoform of Macf1 to model the de novo mutation. (D) Splicing isoforms of Macf1 in mice. The knock-in mutation on a minor exon of Macf1 is indicated by an arrowhead.