Fgfr3^tm3.1Cxd
Targeted Allele Detail

Summary

• Symbol: Fgfr3^tm3.1Cxd
• Name: fibroblast growth factor receptor 3; targeted mutation 3.1, Chu-Xia Deng
• MGI ID: MGI:2135673
• Synonyms: Fgfr3³⁶⁹, Fgfr3^G369C
• Gene: Fgfr3 Location: Chr5:33879068-33894412 bp, + strand Genetic Position: Chr5, 17.83 cM, cytoband B
• Alliance: Fgfr3^tm3.1Cxd page

Smaller body size, dome-shaped heads and reduced bone density in Fgfr3^tm3.1Cxd/Fgfr3^tm3.1Cxd and Fgfr3^tm3.1Cxd/Fgfr3⁺ mice

Show the 4 phenotype image(s) involving this allele.

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 inserted into an adjacent intron was removed via Cre mediated recombination in this derivative of Fgfr3^tm3Cxd. (J:69849)

Disease models

Expression

In Structures Affected by this Mutation:

14 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: 5 reference(s)