Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia.

@article{Sironen2011LossOS,
  title={Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia.},
  author={Anu Sironen and Noora Kotaja and Howard L Mulhern and Todd A Wyatt and Joseph H. Sisson and Jacqueline A. Pavlik and Mari Miiluniemi and Mark D Fleming and Lance Lee},
  journal={Biology of reproduction},
  year={2011},
  volume={85 4},
  pages={690-701}
}
Primary ciliary dyskinesia (PCD) results from defects in motile cilia function. Mice homozygous for the mutation big giant head (bgh) have several abnormalities commonly associated with PCD, including hydrocephalus, male infertility, and sinusitis. In the present study, we use a variety of histopathological and cell biological techniques to characterize the bgh phenotype, and we identify the bgh mutation using a positional cloning approach. Histopathological, immunofluorescence, and electron… CONTINUE READING
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