Fig. 5

Fig. 5

Overexpression of mutant RNF170 in zebrafish. a, b Overexpression of wt but not mutant RNF170 results in morphological abnormalities in zebrafish larvae. Representative images showing normal, mild, moderate, and severe morphology phenotypes in live zebrafish at 48 hpf. Overexpression of wt RNF170 results in more severe phenotypes when compared with mock injected controls (MIC). Overexpression of truncated RNF170 as well as mutant RNF170 harboring the mutation c.304T>C, which was identified in family B, does not result in morphological abnormalities implying that the missense mutation results in a loss of protein function. Scale bar represents 400 μm. c, d Overexpression of wt but not mutant RNF170 results in shortened body axis and smaller eye area. Representative images of MIC (n = 18) zebrafish larvae in comparison with overexpression of wt RNF170 (n = 16) as well as mutants (c.304T>C, n = 26; and truncated RNA, n = 22) at 48 hpf. Only overexpression of wt RNF170 but not mutant RNF170 (both c.304T>C and truncated RNA) result in reduced body length and eye area in comparison with MIC embryos further delineating a loss of function effect of the mutation c.304T>C (one-way ANOVA with Tukey’s multiple comparison test)