Phex^m1Jrt
Chemically induced Allele Detail

Summary

• Symbol: Phex^m1Jrt
• Name: phosphate regulating endopeptidase homolog, X-linked; mutation 1, Janet Rossant
• MGI ID: MGI:5489940
• Synonyms: Phex^Jrt, Phex^K496X
• Gene: Phex Location: ChrX:155945071-156198282 bp, - strand Genetic Position: ChrX, 72.38 cM
• Alliance: Phex^m1Jrt page

Mutation origin

• Strain of Origin: 129S1/SvImJ

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: Sequencing identified a A-to-T replacement in the fourth base pair of exon 14. This results in a lysine to stop codon change at position 496 of the encoded protein. Phex mRNA is expressed at reduced levels in mineralized stromal cells from mutant male hemizygous mice but the encoded protein is undetectable by immunoblot analysis on protein from femurs of mutant male hemizygous mice. (J:196537)

Disease models

Expression

In Structures Affected by this Mutation:

12 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Phex Mutation: 21 strains or lines available

References

• Original: J:196537 Owen C, et al., A novel Phex mutation in a new mouse model of hypophosphatemic rickets. J Cell Biochem. 2012 Jul;113(7):2432-41
• All: 2 reference(s)