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Allele : Fgfr3<tm2Llm> fibroblast growth factor receptor 3; targeted mutation 2, Laurence Legeai-Mallet

Primary Identifier  MGI:5426422 Allele Type  Targeted
Attribute String  Conditional ready, No functional change Gene  Fgfr3
Transmission  Germline Strain of Origin  129S2/SvPas
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • Fgfr3<neoY367C>,
  • Fgfr3<neoY367C>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

5 Publication categories