Human Molecular Genetics, Vol 6, 165-171, Copyright © 1997 by Oxford University Press
TM Strom, F Francis, B Lorenz, A Boddrich, MJ Econs, H Lehrach and T Meitinger
X-linked hypophosphatemic rickets in humans is caused by mutations in the
PEX gene which codes for a protein homologous to neutral endopeptidases.
Hyp and Gy mice both have X-linked hypophosphatemic rickets, although
genetic data and the different phenotypic spectra observed have previously
suggested that two different genes are mutated. In addition to the
metabolic disorder observed in Hyp mice, male Gy mice are sterile and show
circling behavior and reduced viability. We now report the cloning of the
mouse homolog of PEX which is highly conserved between man and mouse. The
3' end of this gene is deleted in Hyp mice. In Gy mice, the first three
exons and the promotor region are deleted. Thus, Hyp and Gy are allelic
mutations and both provide mouse models for X-linked hypophosphatemia.
ARTICLES
Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia
Abteilung Medizinische Genetik, Kinderpoliklinik der Ludwig-Maximilians- Universitat, Muchen, Germany.
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