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| Nomenclature |
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Symbol:
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Fgf23tm1.1Kew
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Name:
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fibroblast growth factor 23;
targeted mutation 1.1, Kenneth E White
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MGI ID: |
MGI:5305729 |
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Synonyms: |
ADHR, Fgf23R176Q |
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Gene:
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Fgf23
Location:
Chr6:127072902-127081408 bp, + strand
Genetic Position: Chr6,
61.92 cM
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Fgf23tm1.1Kew/Fgf23tm1.1Kew mice fed a low-iron diet exhibit osteomalacia
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:180061
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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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). Cre-mediated recombination removed the neo cassette. (J:180061)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Fgf23 Mutation:
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3 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
