Version: 8.0.0
Date: Tue Jan 28 2025
Fgfr3tm3.1Llm
MGI:7516790
Allele of Fgfr3
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Fgfr3tm3.1Llm

Species
Mus musculus
Symbol
Fgfr3tm3.1Llm
Category
allele
Allele of gene
Fgfr3
Transgenic Constructs
None
Synonyms
  • Fgfr3Asn534Lys
Description
An asparagine to lysine substitution at amino acid 534 (p.N534K) was introduced in exon 12. A loxP-flanked neomycin/STOP cassette that was inserted upstream of exon 11 was removed via flp-mediated recombination. This corresponds to the p.N540K gain-of-function mutation identified in patients with hypochondroplasia.
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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