FIGURE 1.

Mutation in zebrafish bbs2 exon 4 causes a frame shift and premature truncation. (A) Coding sequence alignment of the wild-type and bbs2^lri82 alleles. A 15 bp fragment replaces “CTCT” from the wild-type allele, yielding a net 11-bp insertion and a frame shift. Numbering is relative to the start codon. (B) Amino acid sequences the of the wild-type and bbs2^lri82 peptides. The bbs2^lri82 mutation results in a frame shift that terminates after 58 codons (red). (C) Lateral view of 5 dpf wild-type (top), bbs2^+/lri82 heterozygotes (middle) and bbs2^lri82/lri82 homozygotes (bottom) that were verified by genotyping. No differences could be observed. (D) Lateral view of a 10 month old wild-type (top) and bbs2^{– /–} homozygous mutant (bottom). Mutants are smaller and exhibit spinal curvature as adults. Scale bar: (C) 400 μm; (D) 7 mm.