(A) Overview of potential pathways leading to developmental phenotypes upon Rps6 haploinsufficiency, specifically p53 activation and translation dysregulation.
(B) Schematic of mTORC1 regulation and downstream effects.
(C-F) Representative E17.5 forelimbs of WT (Rps6lox/+) and Prx1Cre;Rps6lox/+ embryos in Tsc2 WT (Tsc2+/+) or Tsc2 conditional loss (Tsc2lox/lox) backgrounds. Arrow indicates absence of radius. Scale bars, 1 mm.
(G) OPP MFI of cells dissociated from whole E10.5 forelimbs normalized to WT. n = 7 embryos, (Rps6lox/+;Tsc2+/+); n = 6 embryos, (Prx1Cre;Rps6lox/+;Tsc2+/+); n = 9 embryos, (Rps6lox/+;Tsc2lox/lox); n = 8 embryos, (Prx1Cre;Rps6lox/+;Tsc2lox/lox).
(H) RT-qPCR of p53 target genes from whole E10.5 forelimbs. n = 4 (Rps6lox/+, Prx1Cre;Rps6lox/+, Prx1Cre;Rps6lox/+;Tsc2lox/lox), n = 3 (Rps6lox/+;Tsc2lox/lox).