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Fgfr3tm3Cxd
Targeted Allele Detail
Summary
Symbol: Fgfr3tm3Cxd
Name: fibroblast growth factor receptor 3; targeted mutation 3, Chu-Xia Deng
MGI ID: MGI:2135670
Synonyms: Fgfr3neo369
Gene: Fgfr3  Location: Chr5:33879068-33894412 bp, + strand  Genetic Position: Chr5, 17.83 cM, cytoband B
Alliance: Fgfr3tm3Cxd page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:69849
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 details: A point mutation was introduced that altered codon 369 from one encoding glycine to one encoding cysteine (G369C). A loxP flanked neomycin cassette was also inserted into an adjacent intron. Normal splicing is abolished in this allele. (J:69849)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
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:  54 strains or lines available
References
Original:  J:69849 Chen L, et al., Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis. J Clin Invest. 1999 Dec;104(11):1517-25
All:  2 reference(s)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory