Fig. S4

Patient mutations do not rescue the kidney and retinal phenotypes characteristic of traf3ip1 morphant larvae. (a) Body axis curvature phenotype of traf3ip1 morphant larvae (72 hpf) and morphant larvae co-injected with WT and mutant traf3ip1 RNA. Scale bar, 0.5 mm. (b) Phenotype distribution as determined by quantification of angle of body axis curvature (n=20, 3 independent experiments). (c) Percentage of pronephric cysts in morphant and rescued embryos (n≥20, 3 independent experiments). (d) Eye phenotypes (5 dpf) of WT, traf3ip1 morphant larvae, and larvae co-injected with traf3ip1 morpholino and WT/mutant RNA constructs. Scale bar, 0.1 mm. (e) Surface area of the retina (mean +/- SD of n=10 from 2 independent experiments, *P<0.05, **P< 0.01 and ***P< 0.001, Dunnett's multiplecomparison test) (f) H&E staining of histological cross sections through the eyes of elipsa mutant larvae and traf3ip1 morphant larvae injected with WT or mutant RNAs. Loss of photoreceptor cells is indicated by arrowheads. (g) Cilia in the pronephric duct (48 hpf) of indicated morphants were stained for acetylated-α-tubulin (n=9, 3 independent experiments).