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Fgfr3tm1Llm
Targeted Allele Detail
Nomenclature
Symbol: Fgfr3tm1Llm
Name: fibroblast growth factor receptor 3; targeted mutation 1, Laurence Legeai-Mallet
MGI ID: MGI:3840003
Synonyms: Fgfr3Y367C
Gene: Fgfr3  Location: Chr5:33721724-33737067 bp, + strand  Genetic Position: Chr5, 17.83 cM, cytoband B
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:147208
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 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. (J:147208)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Fgfr3 Mutation:  8 strains or lines available
References
Original:  J:147208 Pannier S, et al., Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia. Biochim Biophys Acta. 2009 Feb;1792(2):140-7
All:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/20/2015
MGI 5.21
The Jackson Laboratory