Phex^Hpr
Chemically induced Allele Detail

Summary

• Symbol: Phex^Hpr
• Name: phosphate regulating endopeptidase homolog, X-linked; hypophosphatemic rickets
• MGI ID: MGI:5435304
• Synonyms: Elvis
• Gene: Phex Location: ChrX:155945071-156198282 bp, - strand Genetic Position: ChrX, 72.38 cM
• Alliance: Phex^Hpr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• This mutation was identified in an ENU screen. There is a missense Trp314Arg mutation. (J:187142)
• Inheritance: Dominant

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Phex Mutation: 22 strains or lines available

References

• Original: J:187142 Karunaratne A, et al., Significant deterioration in nanomechanical quality occurs through incomplete extrafibrillar mineralization in rachitic bone: evidence from in-situ synchrotron X-ray scattering and backscattered electron imaging. J Bone Miner Res. 2012 Apr;27(4):876-90
• All: 3 reference(s)