Fig. 3

Generation of mouse model with Turner syndrome by Y chromosome elimination. a Birth rate of gene-edited embryos for Y chromosome elimination. The experimental group (Rbmy1a1, Ssty1, Ssty2) showed no significant difference compared to the control group (Kdm5d). n is the sample size of transferred embryos. b Sex ratio of mice generated by gene editing. The experimental group (Rbmy1a1, Ssty1, Ssty2) showed more mice with female gonads than the control group (Kdm5d or dCas9 and sgRNA targeting Ssty2). n is the sample size of mice generated by gene editing (***P < 0.001, **P < 0.01, *P < 0.05, Chi-square test). c Percentage of female mice with different karyotypes. n is the sample size of female mice. d Representative image of the XO karyotype of a female generated by Ssty2 targeting. e Representative DNA-FISH images of cultured tail fibroblasts derived from female mice with Rbmy1a1 targeting, showing XO and XO/XY genotypes. Untreated (WT), male or female mice without gene editing. Green, Y probe; red, X probe for XqC3; blue, DNA. Green arrows, Y; red arrows, X. Numbered squares, single cells shown at a higher resolution in the right panel. Bar, 20 μm. f Results of DNA-FISH analysis on the gene-edited female mice. Percentages of cells (including dividing cells, Y:X = 2:2 or 0:2) exhibiting different genotype ratios. Data include XO mice (Rbmy1a1, mice 2 to 5; Ssty1, mice 1 to 4; Ssty2, mice 1 to 5; see Additional file 1: Table S3 for corresponding mice) as well as mosaic XO/XY mice (Rbmy1a1, mice 1, 3, and 4). n is the sample size of counted cells