Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

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:155945071-156198282 bp, - strand  Genetic Position: ChrX, 72.38 cM
Alliance:	Phextm1.2Mkd page

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+

Allele Type:    Targeted (Null/knockout) Mutation:    Intragenic deletion   Mutation details: Exon 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

4 anatomical structure(s)

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

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)