Hypophosphatemia (PhexHyp) is an X-linked semidominant mutation that causes defects in phosphate metabolism. It is allelic with the gyro mutation (PhexGy) 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.
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 Type||Spontaneous (Not Specified)|
|Allele Synonym(s)||hypophosphatemia; PhexHyp|
|Gene Symbol and Name||Phex, phosphate regulating endopeptidase homolog, X-linked|
|Gene Synonym(s)||hypophosphatemia; HPDR; XLH; Gy; Hyp; HPDR1; HYP1; PEX; gyro; HYP; LXHR|
|Strain of Origin||B6.Cg-Qkqk-v|
|Molecular Note||The mutation in the Hyp mouse is a deletion that includes exons 16-22 of the gene.|
When using the hypophosphatemia mouse strain in a publication, please cite the originating article(s) and include JAX stock #000528 in your Materials and Methods section.
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