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Fgfr3tm5.1Cxd
Targeted Allele Detail
Nomenclature
Symbol: Fgfr3tm5.1Cxd
Name: fibroblast growth factor receptor 3; targeted mutation 5.1, Chu-Xia Deng
MGI ID: MGI:2135677
Synonyms: Fgfr3365
Gene: Fgfr3  Location: Chr5:33721674-33737067 bp, + strand  Genetic Position: Chr5, 17.83 cM, cytoband B
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:67780
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsA point mutation was introduced that altered codon 365 from one encoding serine to one encoding cysteine (S365C). A loxP flanked neomycin cassette inserted into an adjacent intron was removed via Cre mediated recombination in this derivative of Fgfr3tm5Cxd. (J:67780)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 12 anatomical structures
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:  29 strains or lines available
References
Original:  J:67780 Chen L, et al., A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia. Hum Mol Genet. 2001 Mar 1;10(5):457-65
All:  1 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
05/15/2018
MGI 6.12
The Jackson Laboratory