Version: 8.0.0
Date: Tue Jan 28 2025
Fgf23tm1.1Kew
MGI:5305729
Allele of Fgf23
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Fgf23tm1.1Kew

Species
Mus musculus
Symbol
Fgf23tm1.1Kew
Category
allele
Allele of gene
Fgf23
Transgenic Constructs
None
Synonyms
  • ADHR
  • Fgf23R176Q
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
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