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Targeted Allele Detail
Symbol: Fgfr3tm1.1Iwa
Name: fibroblast growth factor receptor 3; targeted mutation 1.1, Tomoko Iwata
MGI ID: MGI:2388062
Synonyms: Fgf3K644M, SADDAN
Gene: Fgfr3  Location: Chr5:33721674-33737067 bp, + strand  Genetic Position: Chr5, 17.83 cM, cytoband B
Germline Transmission:  Earliest citation of germline transmission: J:70061
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted
Mutation:    Nucleotide substitutions
Mutation detailsFgfr3tm1Iwa animals carry a lysine to methionine substitution at residue 644 (K644M) of exon 10 and a floxed neo cassette in intron 10. The neo cassette was removed by crossing Fgfr3tm1Iwa mutants to the cre expressing line, TgN(EIIa-cre)C5379Lmgd. Northern blot analysis of brain RNA from mutant animals showed a similar level of gene expression as wild-type. (J:70061)
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  10 strains or lines available
Phenotypic Similarity to Human Syndrome: Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans; SADDAN (J:70061)

Original:  J:70061 Iwata T, et al., Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice. Hum Mol Genet. 2001 Jun 1;10(12):1255-64
All:  2 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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