C57BL/6-Phex^Hyp-2J/J

Stock number: 003950
Product name: hypophosphatemia 2 Jackson
Research areas: Developmental Biology Research, Internal/Organ Research, Metabolism Research

Description

This model of X-linked dominant hypophosphatemic rickets does not display degeneration of the organ of Corti or hearing loss.

Detailed description

Heterozygous females and hemizygous males have a square shaped trunk, shortened tail, and shortened hind limbs. Hemizygous males weigh approximately 25% less than wildtype male controls and the skull has a smaller length and width than normal with a lower areal bone mineral density and larger inner canthal distance. Hemizygous males have hypocalcemia, decreased serum PO₄ and Ca²⁺, undermineralized bone, thickened and irregular growth plates of the knees, and higher lean body mass. Unlike Phex hemizygotes, Phex hemizygous males have normal hearing by ABR threshold analysis and, although cross sections of the cochlea show thickening of the temporal bone and a precipitate in the scala tympani, no degeneration of the organ of Corti or spiral ganglion is found. This mutant strain provides a model of X-linked dominant hypophosphatemic rickets.

Allele

Symbol: Phex^Hyp-2J
Name: hypophosphatemia 2 Jackson
MGI accession ID: MGI:2181653
Generation method: Spontaneous
Marker symbol: Phex
Marker name: phosphate regulating endopeptidase homolog, X-linked
Marker synonyms: HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Chromosome: X
Strain of origin: C57BL/6J
Molecular note: A deletion of at least 7.3 kb containing exon 15 of the Phex gene was identified and confirmed by RT-PCR, genomic PCR and Southern blot analysis