Fgfr3^tm5.1Cxd
Targeted Allele Detail

Summary

• Symbol: Fgfr3^tm5.1Cxd
• Name: fibroblast growth factor receptor 3; targeted mutation 5.1, Chu-Xia Deng
• MGI ID: MGI:2135677
• Synonyms: Fgfr3³⁶⁵
• Gene: Fgfr3 Location: Chr5:33879068-33894412 bp, + strand Genetic Position: Chr5, 17.83 cM, cytoband B
• Alliance: Fgfr3^tm5.1Cxd page

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 details: A 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 Fgfr3^tm5Cxd. (J:67780)

Disease models

Expression

In Structures Affected by this Mutation:

10 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: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)