Kbus/Idr, a Mutant Mouse Strain with Skeletal Abnormalities and Hypophosphatemia: Identification As an Allele of 'Hyp'

Overview

Journal J Biomed Sci

Publisher Biomed Central

Specialty Biology

Date 2011 Aug 23

PMID 21854633

Citations 2

Authors

Kenji Moriyama

Atsuko Hanai

Kazuyuki Mekada

Atsushi Yoshiki

Katsueki Ogiwara

Atsushi Kimura

Takayuki Takahashi

Affiliations

Soon will be listed here.

Abstract

Background: The endopeptidase encoded by Phex (phosphate-regulating gene with homologies to endopeptidases linked to the X chromosome) is critical for regulation of bone matrix mineralization and phosphate homeostasis. PHEX has been identified from analyses of human X-linked hypophosphatemic rickets and Hyp mutant mouse models. We here demonstrated a newly established dwarfism-like Kbus/Idr mouse line to be a novel Hyp model.

Methods: Histopathological and X-ray examination with cross experiments were performed to characterize Kbus/Idr. RT-PCR-based and exon-directed PCR screening performed to identify the presence of genetic alteration. Biochemical assays were also performed to evaluate activity of alkaline phosphatase.

Results: Kbus/Idr, characterized by bone mineralization defects, was found to be inherited in an X chromosome-linked dominant manner. RT-PCR experiments showed that a novel mutation spanning exon 16 and 18 causing hypophosphatemic rickets. Alkaline phosphatase activity, as an osteoblast marker, demonstrated raised levels in the bone marrow of Kbus/Idr independent of the age.

Conclusions: Kbus mice should serve as a useful research tool exploring molecular mechanisms underlying aberrant Phex-associated pathophysiological phenomena.

Citing Articles

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