Fig. 3

Fig. 3

kif3a^pd1084 mutants present defects in cilia formation and kidney cysts. (A) Brightfield image of 5-dpf WT sibling and dx36.18¹⁰⁸⁴ mutant larvae. Red arrowhead indicates a kidney cyst. (B) Confocal images of transverse sections of 5-dpf WT sibling and dx36.18¹⁰⁸⁴ mutant larvae stained with phalloidin (red) and DAPI (blue). The arrowheads point to the pronephric ducts and the asterisks mark kidney cysts. (C) Confocal image of 3-dpf WT and dx36.18¹⁰⁸⁴ mutant in whole-mount, stained for acetylated tubulin to mark cilia. (D) Linkage analysis for dx36.18¹⁰⁸⁴ using SNPtrack. (E) The homozygosity interval for dx36.18¹⁰⁸⁴. (F) Linkage analysis of the dx36.18¹⁰⁸⁴ locus. (G) Rescue of the dx36.18^pd1084 phenotype with WT human KIF3A cRNA. Rescue was confirmed by genotyping (not shown). (H) Sequencing of genomic DNA of WT and kif3a^pd1084 mutant larvae showing a six nucleotide insertion in kif3a that adds two extra codons between exons 6 and 7 (underlined). (I) Sequencing of cDNA confirms the insertion of codons coding for MQ in kif3a^pd1084 mutants. TMM, threonine, methionine, methionine; CAN, cysteine, alanine, asparagine. (J) Alignment of Kif3a protein sequences from zebrafish, human, mouse, rat and frog.