This mutant offers a model for X-linked dominant hypophosphatemic rickets.  The serum phosphorus (2.95 mg/dL) in hemizygous males is lower than that found in hypophosphatemia, hypophosphatemia 2 Jackson, or gyro hemizygous males. The skeletal defects include shortened long bones and craniofacial defects and hemizygous males have cochlear degeneration and a heightened auditory brainstem response threshold, higher than that in other <i>Phex</i> mutants.  The heightened ABR threshold is dependent upon a modifier that is absent in BALB/cByJ.  Consistent with vestibular dysfunction, approximately half of the hemizygous males and some of the heterozygous females display circling behavior, and in hemizygous males head bobbing or unstable gait have also been noted.  Hemizygous males are mildly growth retarded, with a squared and shortened body, and shortened hind limbs and tail. While some heterozygous females display circling and growth retardation, not all do and they are more difficult to distinguish from wildtype than are heterozygous hypophosphatemia 2 Jackson heterozygotes.

These mice carry a spontaneous mutation at the <i> Phex</i> locus characterized by low level of serum phosphorus, skeletal defects, and behavior consistent with vestibular dysfunction. This mutant offers a model for X-linked dominant hypophosphatemic rickets.

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