Phex^tm1.1Mkd
Targeted Allele Detail

Summary

• Symbol: Phex^tm1.1Mkd
• Name: phosphate regulating endopeptidase homolog, X-linked; targeted mutation 1.1, Marc K Drezner
• MGI ID: MGI:3775078
• Gene: Phex Location: ChrX:155945071-156198282 bp, - strand Genetic Position: ChrX, 72.38 cM
• Alliance: Phex^tm1.1Mkd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:131043
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: Exon 17 was flanked with a loxP site and a floxed neo cassette via homologous recombination. The neo cassette was subsequently removed via in vivo Cre-mediated recombination leaving exon 17 flanked by 2 single loxP sites. Cre mediated removal of exon 17 will result in a frameshift, premature termination codon and truncated protein. (J:131043)

Expression

In Structures Affected by this Mutation:

4 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: 22 strains or lines available

References

• Original: J:131043 Yuan B, et al., Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. J Clin Invest. 2008 Feb;118(2):722-34
• All: 1 reference(s)