Figure 4

Phenotypes of zebrafish embryos at 8–12 ss, after whole mount in situ hybridization. Knockdown of zebrafish bbs1 (A–F), bbs5 (G–L) and bbs6 (M–P) genes affects body axis/length, notochord and somite morphology. Morphology of the controls (A,G,M; dorsal view anterior to the top), morpholino (B,H,M; dorsal view anterior to the top), morpholino plus WT human BBS capped-mRNA (C,I,O), and morpholino plus sense capped-mRNA of different human BSS variants (D–F,J–L,P; dorsal view anterior to the top) zebrafish at 12 somites (ss). The embryos were fixed for in situ hybridization of myoD/krox20/pax2. Injection of WT human BSS1, BSS5 and BSS6 capped-mRNA rescues the phenotype of bbs1, bbs5 and bbs6 MO-injected embryos, respectively. However, the mutated capped-mRNA of the BBS particular changes of each loci (W23*, V366D, H504fs, R138C, F180fs, N184S, G411A – abbreviated nomenclature) were not able to rescue the respective phenotype of BBS1, BBS5 and BBS6 MO-treated embryos. Scales bars: 100 µm.