Fig. 2

Patients mutations do not rescue the ciliopathy-associated phenotypes characteristic of elipsa mutants.

(a) Lateral views of zebrafish larvae at 72 hpf of WT control, elipsa uninjected larvae and elipsa larvae injected with WT or mutant RNA constructs (p.R154* and p.V459R correspond to the human p.R155* and p.M520R mutations, respectively). Approximately 20% of V125M-injected elipsa larvae displayed an alternative stunted phenotype with pronephric cysts and eye defects, but lacking the characteristic body axis curvature. Scale bar, 0.5 mm. (b) Phenotype distribution as determined by quantification of angle of body axis curvature (n≥30, 4 independent experiments). (c) Eye phenotypes (5 dpf) of WT control, elipsa uninjected larvae and elipsa larvae injected with WT/mutant RNA constructs, lateral views, anterior to the left. Scale bar, 0.1 mm. (d) Surface area of the retina (mean ± s.d. of n=10, 2 independent experiments, *P=0.05, **P<0.01, and ***P<0.001, Dunnett’s multiple-comparison test). (e) H&E staining of histological cross sections of elipsa mutant larvae injected with WT or mutant RNA constructs at 72 hpf. Gross cystic dilations of the glomerular region extending to the pronephric tubule are indicated by asterisks. Scale bar, 20 μm. (f) Percentage of pronephric cysts in elipsa mutant larvae as well as rescued larvae (n≥30, 4 independent experiments).