Fig. 2: Comparison of the effects of independent human-disease-linked variants in the hZRS enhancer.
From: Rapid and quantitative functional interrogation of human enhancer variant activity in live mice
a Sample image of an E11.5 hZRS404G>A-mCherry/hZRS404G>A-eGFP embryo. Panels on the right show high-resolution images of the hindlimb bud and anterior domain (above), as marked by outlined boxes. b Representative image of hZRS446T>A-mCherry/hZRS404G>A-eGFP embryo at E11.5. Panels on the right show high-resolution images of the hindlimb bud and its anterior domain (above), as marked by outlined boxes. c FACS-based quantification of the overlap between mCherry- and eGFP-expressing cells in the anterior domain of limb buds. d Plots depicting population distribution of eGFP +, eGFP + mCherry +, and mCherry + cells in the anterior domain of fore- and hindlimbs. Each genotype contains at least three independent biological replicates. Genotypes of dual-enSERT-1 embryos are labelled along the x-axis and coloured according to the downstream reporter gene. Fisher’s exact tests. hZRSRef-mCherry/hZRS404G>A-eGFP vs. hZRS404G>A-mCherry/hZRS404G>A-eGFP: Forelimb, P < 2.2E-16; Hindlimb, P < 2.2E-16. hZRSRef-mCherry/hZRS404G>A-eGFP vs. hZRS446T>A-mCherry/hZRS404G>A-eGFP: Forelimb, P < 2.2E-16; Hindlimb, P < 2.2E-16. hZRS404G>A-mCherry/hZRS404G>A-eGFP vs. hZRS446T>A-mCherry/hZRS404G>A-eGFP: Forelimb, P = ns; Hindlimb, P = ns. Data represented as mean ± SEM for plots. All scale bars, 500 μm. Source data are provided as a Source Data file.
