Characterization of the medaka(Oryzias latipes) primary ciliary dyskinesia mutant, jaodori.

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Cilia and flagella are highly conserved organelles that have diverse motility and sensory functions. Motility defects in cilia and flagella result in primary ciliary dyskinesia(PCD). We isolated a novel medaka PCD mutant, jaodori(joi). Positional cloning showed that axonemal dynein intermediate chain 2(dnai2) is responsible for joi. In the joi mutant, cilia in Kupffer's vesicle(KV), an organ functionally equivalent to the mouse node in terms of left-right specification, are generated but their motility is disrupted, resulting in a LR defect. Ultrastructural analysis revealed severe reduction in the outer dynein arms in KV cilia of joi mutants.