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Fgfr3tm1.1Iwa
Targeted Allele Detail
Nomenclature
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: Chr5:33721724-33737067 bp, + strand  Genetic Position: Chr5, 17.83 cM, cytoband B
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:70061
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted
Mutation:    Nucleotide substitutions
 
Mutation details
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
Notes
Phenotypic Similarity to Human Syndrome: Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans; SADDAN (J:70061)

References
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)

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
11/11/2014
MGI 5.20
The Jackson Laboratory