Fgf23^tm1.1Kew
Targeted Allele Detail

Summary

• Symbol: Fgf23^tm1.1Kew
• Name: fibroblast growth factor 23; targeted mutation 1.1, Kenneth E White
• MGI ID: MGI:5305729
• Synonyms: ADHR, Fgf23^R176Q
• Gene: Fgf23 Location: Chr6:127049865-127058371 bp, + strand Genetic Position: Chr6, 61.92 cM
• Alliance: Fgf23^tm1.1Kew page

Fgf23^tm1.1Kew/Fgf23^tm1.1Kew mice fed a low-iron diet exhibit osteomalacia

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:180061
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

Allele Type: Targeted (Humanized sequence) Mutations: Insertion, Single point mutation Mutation details: Exon 3 was replaced with a floxed neo cassette and a modified exon 3 in which a silent mutation inserted a SacI site and a nucleotide substitutions (CGC to CAG) results in the amino acid substitution of glutamine for arginine at position 176 (R176Q), mimicking a mutation found in some autosomal dominant hypophosphatemic rickets (ADHR) patients. Cre-mediated recombination removed the neo cassette. (J:180061)

Gene targeting to generate the Fgf23^tm1.1Kew allele

Disease models

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 Fgf23 Mutation: 16 strains or lines available

References

• Original: J:180061 Farrow EG, et al., Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice. Proc Natl Acad Sci U S A. 2011 Nov 15;108(46):E1146-55
• All: 4 reference(s)