Abnormal cilia in a male-sterile mutant mouse

In mice homozygous for the mutation hydrocephalic-polydactyl (hpy) ciliary axonemes from tracheal, oviducal, and ependymal lining cells showed a variety of abnormalities. Defects included: a deficiency of inner dynein arms, extra central tubules, a displacement of one outer doublet and/or the central tubules, and double axonemes. More than one kind of defect was seen in some axonemes. None of the types of defects observed in mutants were encountered in equivalent samples from non-mutant littermates. Except for the most common defect, the deficiency in dynein arms, which occurred to about the same extent (approximately 34%) in all three tissues, there were marked variations in frequency among the tissue types with respect to the other defects. In general, defects such as central tubule anomalies, displaced tubules, and double axonemes occurred with the highest frequencies in axonemes from tracheal epithelial cells and with the lowest frequencies in samples of oviducal epithelium. Fused cilia were seen only in ependymal cell samples. Some of the defects encountered were common to sperm flagella axonemes while others appeared restricted to somatic tissues, suggesting, perhaps, each tissue type may exert its own modulating influence on the expression of the mutant gene.