Fgfr3^tm1Cxd
Targeted Allele Detail

Summary

• Symbol: Fgfr3^tm1Cxd
• Name: fibroblast growth factor receptor 3; targeted mutation 1, Chu-Xia Deng
• MGI ID: MGI:2135666
• Synonyms: pFgfr3-TD
• Gene: Fgfr3 Location: Chr5:33879068-33894412 bp, + strand Genetic Position: Chr5, 17.83 cM, cytoband B
• Alliance: Fgfr3^tm1Cxd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:52438
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted
• Mutation: Insertion
• Mutation details: Knock-in construct in which a portion of a cDNA corresponding to exons 5-19 followed by a polyadenylation signal was inserted into the endogenous locus. This allele carried a point mutation in codon 644 that altered the corresponding amino acid from lysine to glutamine. A loxP flanked neomycin cassette also inserted downstream of the inseted cDNA was removed via Cre mediated recombination in the final allele. (J:52438)

Disease models

Expression

In Structures Affected by this Mutation:

11 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:52438 Li C, et al., A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors. Hum Mol Genet. 1999 Jan;8(1):35-44
• All: 1 reference(s)