Version: 8.0.0
Date: Tue Jan 28 2025
Fgfr3tm1Iwa
MGI:2388058
Allele of Fgfr3
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Fgfr3tm1Iwa

Species
Mus musculus
Symbol
Fgfr3tm1Iwa
Category
allele
Allele of gene
Fgfr3
Transgenic Constructs
None
Synonyms
  • Fgf3K644Mneo
Description
A lysine to methionine substitution at residue 644 (K644M) was introduced into exon 10 of the gene along with a floxed neo cassette in intron 10. The mutation corresponds to K650M in humans (exon 15), which is associated with severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN).
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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