NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development.

@article{Won2011NPHP4IN,
  title={NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development.},
  author={Jungyeon Won and Caralina Mar{\'i}n de Evsikova and Richard S. Smith and Wanda L. Hicks and Malia M. Edwards and Chantal M. Longo-Guess and Tiansen Li and J{\"u}rgen K Naggert and Patsy M. Nishina},
  journal={Human molecular genetics},
  year={2011},
  volume={20 3},
  pages={482-96}
}
Nephronophthisis (NPHP) is an autosomal recessive kidney disease that is often associated with vision and/or brain defects. To date, 11 genes are known to cause NPHP. The gene products, while structurally unrelated, all localize to cilia or centrosomes. Although mouse models of NPHP are available for 9 of the 11 genes, none has been described for nephronophthisis 4 (Nphp4). Here we report a novel, chemically induced mutant, nmf192, that bears a nonsense mutation in exon 4 of Nphp4. Homozygous… CONTINUE READING

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