Figure 1. Creation and validation of the Dnm2^SL/+ mouse with the S619L Dnm2 mutation.

(A) Left: Structure of the PH-stalk interface in a closed conformation modeled from the structure of dynamin 3 tetramer (PDB ID 5A3F). Residues mutated in ADCNM are in red. The S619 residue is located on the PH domain at the PH-stalk interface. Right: Exonic and protein domain structure of DNM2. ASO-1 is an antisense oligonucleotide targeting murine Dnm2. Exons 10a, 10b, 12b, and 13b are alternatively spliced exons. PH, pleckstrin homology; GED, GTPase effector domain; PRD, proline rich domain. The middle and GED domains form the stalk. (B) Genomic region, plasmid, and strategy for homologous recombination. (C) Chromatopherograms of the Dnm2 mutation identified in heterozygous and homozygous mice. (D) Example of DNA genotyping. (E) Proportion of genotypes obtained at 18.5 dpc (n = 15), day 2 (P2; n = 35), and day 10 (P10; n = 130).