Fig. 4

Identification of a mouse model with Turner syndrome generated by Y chromosome elimination. a–c Rbmy1a1 (a), Ssty1 (b), Ssty2 (c) targeted mice used for genotyping (listed in Additional file 1: Table S3). The XO pure mice showed no Y chromosome-specific genes, suggesting complete elimination of the Y chromosome. Y chromosome short arm, Uba1y, Kdm5d, Eifs23y, Dxd3y, Usp9y, Tspy, Sry, Rbmy1a1; Y chromosome long arm, Ssty1, Ssty2. Gapdh, control gene in autosome. d WGS showed Y chromosome elimination of XO mice. Histograms of X and Y chromosome are shown in the right panel at a higher resolution. The XO mice (Rbmy1a1, #2 and Ssty1, #1) showed one copy of the X chromosome with the Y chromosome absent. Vertical axis, copy number; horizontal axis, chromosome number. e Twelve-week old XO mouse from Ssty2 XO #4 showing normal female genitals (green arrowheads) and nipples (red arrowheads). WT, female mice without gene editing. f, g Fertility of mice with Y chromosome deletion. The gene-edited XO female mice (number indicated above) were paired with wild-type male mice for over 3 months. The frequency of pregnancy (f) and litter size (g) was determined and compared with those of XX siblings (**P < 0.01, *P < 0.05, not significant (n.s.), P > 0.05, Chi-square test). h The weight of XO mice (Rbmy1a1, Ssty1, Ssty2) and the siblings of XX mice. The mice were measured about once a week from 1 week to 9 weeks. Means ± SEM