A mutation in the nuclear pore complex gene Tmem48 causes gametogenesis defects in skeletal fusions with sterility (sks) mice.

@article{Akiyama2013AMI,
  title={A mutation in the nuclear pore complex gene Tmem48 causes gametogenesis defects in skeletal fusions with sterility (sks) mice.},
  author={Kouyou Akiyama and Junko Noguchi and Michiko Hirose and Shimpei Kajita and Kentaro Katayama and Maryam Khalaj and Takehito Tsuji and Heather Fairfield and Candice Byers and Laura G Reinholdt and Atsuo Ogura and Tetsuo Kunieda},
  journal={The Journal of biological chemistry},
  year={2013},
  volume={288 44},
  pages={31830-41}
}
Skeletal fusions with sterility (sks) is an autosomal recessive mutation of mouse that results in male and female sterility because of defects in gametogenesis. The mutants also have skeletal malformations with fused vertebrae and ribs. We examined testicular phenotypes of sks/sks mice to investigate the defects in spermatogenesis. Histological and immunocytochemical analyses and expression analyses of the marker genes demonstrated that spermatogenesis is arrested at mid to late pachytene stage… CONTINUE READING