Allele/Variant

Fgfr3tm1Llm

Species
Mus musculus
Symbol
Fgfr3tm1Llm
Category
allele
Allele of gene
Fgfr3
Transgenic Constructs
None
Synonyms
  • Fgfr3Y367C
Description
Exon 9 was replaced with one in which nucleotide substitutions result in the amino acid substitution of cysteine for tyrosine at position 367 (Y367C). This mutation was corresponds to the Y373C mutation in human patients with thanatophoric dysplasia type I and causes ligand independent activation of the receptor. A floxed neo was inserted downstream of exon 9 and removed by germ line, cre mediated recombination.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations