New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice

@article{LorenzDepiereux2003NewID,
  title={New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice},
  author={Bettina Lorenz-Depiereux and Victoria E. Guido and Kenneth R. Johnson and Qing Zheng and Leona H. Gagnon and Joiel D. Bauschatz and Muriel T. Davisson and Linda L. Washburn and Leah Rae B Donahue and Tim Matthias Strom and Eva M. Eicher},
  journal={Mammalian Genome},
  year={2003},
  volume={15},
  pages={151-161}
}
X-linked hypophosphatemic rickets (XLH) in humans is caused by mutations in the PHEX gene. Previously, three mutations in the mouse Phex gene have been reported: Phex Hyp , Gy, and Phex Ska1 . Here we report analysis of two new spontaneous mutations in the mouse Phex gene, Phex Hyp-2J and Phex Hyp-Duk . Phex Hyp-2J and Phex Hyp-Duk involve intragenic deletions of at least 7.3 kb containing exon 15, and 30 kb containing exons 13 and 14, respectively. Both mutations cause similar phenotypes in… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 18 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 29 references

The Jackson Laboratory mouse mutant resource

  • MT Davisson
  • Lab Anim
  • 1990
Highly Influential
4 Excerpts

Similar Papers

Loading similar papers…