B6.Cg-Phex^Hyp/J

Stock number: 000528
Product name: hypophosphatemia
Research areas: Developmental Biology Research, Endocrine Deficiency Research, Internal/Organ Research, Mouse/Human Gene Homologs, Sensorineural Research

Description

This model of X-linked dominant hypophosphatemic rickets has degeneration of the organ of Corti and associated hearing loss.

Detailed description

Hypophosphatemia (Phex^Hyp) is an X-linked semidominant mutation that causes defects in phosphate metabolism. It is allelic with the gyro mutation (Phex^Gy) but hypophosphatemia mutant mice do not circle. Hemizygous males and heterozygous females can be recognized at 20 to 30 days of age by their shortened hindlimbs and tail. They have reduced body size which persists throughout life, and skeletal changes resembling rickets. Hemizygous males are more affected than heterozygous females. Viability is normal in both sexes, but heterozygous females show better fertility than hemizygous males.

Development

Initially misnamed osteopetrotic (Op), the hypophosphatemia mutation arose spontaneously in 1968 in a C57BL/6J stock bearing the quaking mutation. The quaking mutation arose in the DBA/2J strain in 1961, and was crossed twice to the C3H strain before being crossed onto C57BL/6J. The hypophosphatemia mutation has been maintained by backcrossing heterozygous females to C57BL/6J males. In 1984 this strain reached generation N20 and in 2008 it reached generation N100.

Allele

Symbol: Phex^Hyp
Name: hypophosphatemia
MGI accession ID: MGI:1857312
Generation method: Spontaneous
Attributes: Not Specified
Synonyms: Hyp; Op
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: B6.Cg-Qki^qk-v
Molecular note: The mutation in the Hyp mouse is a deletion that includes exons 16-22 of the gene.