Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Fgfr3tm3.1Cxd Name: fibroblast growth factor receptor 3; targeted mutation 3.1, Chu-Xia Deng MGI ID: MGI:2135673 Synonyms: Fgfr3369, Fgfr3G369C Gene: Fgfr3  Location: Chr5:33879068-33894412 bp, + strand  Genetic Position: Chr5, 17.83 cM, cytoband B Alliance: Fgfr3tm3.1Cxd page

Smaller body size, dome-shaped heads and reduced bone density in Fgfr3tm3.1Cxd/Fgfr3tm3.1Cxd and Fgfr3tm3.1Cxd/Fgfr3+ mice Show the 4 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:69849
Parent Cell Line:	TC1/TC-1 (ES Cell)
Strain of Origin:	129S6/SvEvTac

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 inserted into an adjacent intron was removed via Cre mediated recombination in this derivative of Fgfr3tm3Cxd. (J:69849)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

14 anatomical structure(s)

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:	52 strains or lines available

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:	5 reference(s)