title: Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia.
abstract: 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.
authors.affiliation: Abteilung Medizinische Genetik, Kinderpoliklinik der Ludwig-Maximilians-Universität, Müchen, Germany.
authors.forename: T M
authors.initials: TM
authors.lastname: Strom
authors.forename: F
authors.initials: F
authors.lastname: Francis
authors.forename: B
authors.initials: B
authors.lastname: Lorenz
authors.forename: A
authors.initials: A
authors.lastname: Böddrich
authors.forename: M J
authors.initials: MJ
authors.lastname: Econs
authors.forename: H
authors.initials: H
authors.lastname: Lehrach
authors.forename: T
authors.initials: T
authors.lastname: Meitinger
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D004195:Disease Models, Animal; D017353:Gene Deletion; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000235:genetics*; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008969:Molecular Sequence Data; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; D011506:Proteins / Q000235:genetics*; D014960:X Chromosome
chemical_list: D011506:Proteins; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human; C506232:Phex protein, mouse