Figure 4

vangl2^m209 convergent extension defect can be rescued by most VANGL2 VUS. (A–C) Representative brightfield images of (A) uninjected sibling, (B) uninjected homozygous vangl2^m209 mutant, (C) homozygous vangl2^m209 mutant injected with WT VANGL2 mRNA. (D) Quantification of AP length at 26 hours post fertilization (hpf) to examine efficacy of WT VANGL2 to rescue vangl2^m209 phenotype. Colour-coded regions defined by uninjected vangl2^m209 mutant data range: within/no rescue is grey, above/rescue is green and below/worsens is magenta. WT VANGL2 mRNA injection partially rescues AP axis length. Each dot denotes a single embryo. (E) Homozygous vangl2^m209 mutant injected with p.L242V VANGL2 mRNA, (F) homozygous vangl2^m209 mutant injected with p.R135W VANGL2 mRNA, (G) homozygous vangl2^m209 mutant injected with p.R169H VANGL2 mRNA, (H) homozygous vangl2^m209 mutant injected with p.T247M VANGL2 mRNA, (I) homozygous vangl2^m209 mutant injected with p.R177H VANGL2 mRNA, (J) homozygous vangl2^m209 mutant injected with p.R482H VANGL2 mRNA. (K) Quantification of AP length at 26 hpf in homozygous vangl2^m209 mutants injected with mRNA encoding different VANGL2 VUS. Variants are ranked and grouped based on result of statistical test when compared to uninjected homozygous vangl2^m209 mutants and homozygous vangl2^m209 mutants injected with WT VANGL2 mRNA (see Supplementary Table 2 for statistical tests). Each dot denotes a single embryo. Colour coded regions and dots denote comparison against uninjected homozygous vangl2^m209 mutants from panel D. A-C, E-J: Lateral views, anterior left. D, K: Brown-Forsythe and Welch ANOVA with multiple comparisons, Mean ± SEM, ^****: p < 0.0001. Scale bars: 0.2 mm.