Article
New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Mar 2004
Lorenz-Depiereux Bettina, Guido Victoria E, Johnson Kenneth R, Zheng Qing Yin, Gagnon Leona H, Bauschatz Joiel D, Davisson Muriel T, Washburn Linda L, Donahue Leah Rae, Strom Tim M, Eicher Eva M
Abstract excerpt
X-linked hypophosphatemic rickets (XLH) in humans is caused by mutation 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 mutation 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...
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