Fig. 1
From: Monkeys mutant for PKD1 recapitulate human autosomal dominant polycystic kidney disease
PKD1 mutant monkeys with varying degrees of cystic severity. a A schematic diagram of the targeting site in the monkey PKD1 gene. b The numbers of embryos injected with 50, 100, or 200 ng/µl Cas9 mRNAs and 50 ng/µl sgRNA. “Survived” indicates the number of survived embryos after injection. We used embryos developed to blastocysts for genotyping analysis (Analyzed) or embryo transfer (ET) and the remaining embryos were frozen. c Box plot of mutation detection rates in each mRNA-injected embryo. The top and bottom edges of boxes indicate the first and third quartiles, respectively; the center lines indicate the medians, and the ends of whiskers indicate the maximum and minimum values, respectively. n = 71 biologically independent samples. d The numbers of aborted fetuses and delivered monkeys. e Categorization of genotypes of aborted embryos and delivered monkeys. Black bars indicate the rates of frameshift mutations. Dark gray bars indicate the rates of in-frame mutations involving more than two amino acids. Light gray bars indicate the rates of one- or two-amino-acid in-frame mutations and missense mutations. Off-white bars indicate wild-type (WT) rates. In the row labeled “Allele,” “M” indicates the maternal allele, “P” indicates the paternal allele, and “ND” indicates that it was undetermined whether the alleles were maternal or paternal. “Sequenced” indicates the number of sequences examined in this analysis. “Day of death” indicates the day of abortion. In cases of monkeys that died after birth, the number before “+” indicates the delivery day and the number after “+” indicates the day of death. Green boxes indicate the animals whose data are shown in f and Fig. 5a. f Low-power, H&E-stained images indicating severe-, intermediate-, and mild-type kidneys. The compartments in intermediate-type kidneys that show features similar to those in severe-type kidneys are surrounded by dotted lines. “L” indicates left kidneys and “R” indicates right kidneys. Arrowheads indicate cyst formation. Scale bar in large images, 1 mm. Scale bar in the small box, 100 µm. Source data are provided as a Source Data file.
