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Phextm1.2Mkd
Targeted Allele Detail
Nomenclature
Symbol: Phextm1.2Mkd
Name: phosphate regulating endopeptidase homolog, X-linked; targeted mutation 1.2, Marc K Drezner
MGI ID: MGI:3775079
Gene: Phex  Location: ChrX:157162075-157415312 bp, - strand  Genetic Position: ChrX, 72.38 cM
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 (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsExon 17 was flanked with a loxP site and a floxed neo cassette via homologous recombination. The neo cassette and exon 17 were subsequently removed via in vivo Cre-mediated recombination. This results in a frameshift, premature termination codon and truncated protein. PCR analysis confirmed the presence of a 0.4 kb truncated transcript in mice carrying this allele. (J:131043)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
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:  11 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/25/2015
MGI 5.21
The Jackson Laboratory