Fig. 2: Synthetic changes to the ETS-A site that create a 0.25-affinity site and a LOF site cause predicted phenotypes.
From: Affinity-optimizing enhancer variants disrupt development
a–d, The Syn 0.25 ETS-A site (a), which has an affinity of 0.25, drives the ectopic expression of Shh (b) and Ptch1 (c) in the anterior limb bud, in addition to the normal ___domain of expression in the posterior limb bud. d, Skeletal staining of a homozygous mouse hindlimb shows an extra triphalangeal thumb. e–h, The LOF ETS-A site (e) drives the normal expression of Shh (f) and Ptch1 (g) in the posterior limb bud. h, Homozygous mice have normal digit morphology. We did not calculate n for Shh because the expression is highly dynamic and thus hard to accurately capture; instead, we calculate the n of Ptch1 as a readout of Shh.
