Extended Data Fig. 7: Characterization of TGDS KI/KO mice.
From: A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia
a, Photographs of WT and KI/KO embryos at E18.5 show mildly shortened snouts and limbs in the mutants. Scale bar: 2 mm. b, µCT scans of 5-weeks-old WT and KI/KO mice. Measured parameters are shown in yellow. c, Quantification of skull measurements reveals tendencies similar to the ones observed in embryos, but they did not reach significance, likely due to smaller cohort sizes. Each measurement was normalized to the mean of the cohort of WT mice (littermates). Data are mean ± SD (n = 3). The differences between groups were analysed by two-tailed Welch’s t-test corrected for multiple testing according to Holm-Sidak. d, Skeletal preparations of front limb paws of WT and KI/KO embryos at E18.5 show normal digit morphology. e, Digit length was unaffected in the mutant animals. Each measurement was normalized to the mean of the WT littermates and data are mean ± SD (n = 8-10 for WT, and n = 8-9 for KI/KO). The differences between groups were analysed by two-tailed Welch’s t-test corrected for multiple testing by Holm-Sidak. L, left; R, right. Scale bar: 0.5 mm. For exact p-values see source data file.
