Fig. 1. Characterization of bbs1 mutant zebrafish.

a Deletion of 5 bp in exon 4 of bbs1 causes a frameshift resulting in a premature termination (red letters) (cDNA). b Sanger sequencing of the gDNA flanking the indel highlighting the exon (bright blue box) and the intron (grey box). c Lateral view of 5 dpf larvae and adults (>3 months post fertilization (mpf) with wildtype in the top panel, zygotic mutant (zgbbs1) in the middle panel and maternal zygotic mutant (mzbbs1) in the bottom panel. Of note, presence and degree of body curvature varied in mz mutants (>100 clutches collected). d Summary of the phenotypic characterization with respect to typical cilia-associated phenotypes showing differences between zygotic and maternal zygotic mutants for larval body curvature. Note that scoliosis is present in nearly all zygotic and in all maternal-zygotic adult mutants. Sample sizes: 5dpf n = 200/genotype, adult: n = 60/genotype, 3 dpf kidney/situs inversus/otoliths: n = 100/category. e Whole mount immunostaining of various ciliated tissues including nose pit, midline neuroepithelium, hindbrain ventricle cilia at 3 days post fertilization (dpf) and midline neuroepithelium at 10 dpf. Nose pit cilia were labelled using anti-Arl13b (magenta) or anti-glutamylated tubulin GT335 (green) antibodies. Midline and hindbrain cilia were stained only using anti-glutamylated tubulin GT335 (green). Note that no differences in abundance or morphology of cilia were observed between mzbbs1 mutants (bottom) and their sibling controls (top). All close-up images are dorsal views with rostral to the left and caudal to the right. The overview image indicates orientation. Scale bars: (c) 0.5 mm (larvae), 1 cm (adult), (e) 10 µm.