Fig. 3

Fig. 3 Characterization of nphp4^sa41188 and nphp4^ex1-del5 mutant zebrafish lines. (A) While homozygote nphp4^sa41188 (m/m) zebrafish did not experience an increased frequency of cloaca malformation, the number of glomerular cysts was significantly increased (Fisher’s exact test, two-sided). (B) The homozygotic (m/m) in-cross (F2 generation) showed a moderate increase in glomerular cyst and cloaca malformation that was statistically not significant. (C) The combined number of glomerular and cloaca cyst formation declined significantly from the nphp4^sa41188 (m/m) F1 to the F2 generation (Fisher’s exact test, two-sided). (D) Crossing of heterozygote +/nphp4^ex1-del5 zebrafish did not result in a significant increase in either glomerular cysts or cloaca malformation. (E) Generation of homozygote nphp4^ex1-del5 (m/m) F2 zebrafish increased the number of cloaca malformation in comparison with wild-type siblings, but not the number of glomerular cysts. (F) Other ciliopathy phenotypes such as abnormalities of the body axis, were comparable between wild-type siblings and homozygote nphp4^ex1-del5 (m/m) F2 zebrafish. (G) The combined number of glomerular and cloaca cyst formation declined slightly from the nphp4^ex1-del5 (m/m) F1 to the F2 generation; however, the difference was statistically not significant (Fisher's exact test, two-sided). The numbers displayed below the graphs depict the group size.