Fgfr2^tm3.1Cxd
Targeted Allele Detail

Summary

• Symbol: Fgfr2^tm3.1Cxd
• Name: fibroblast growth factor receptor 2; targeted mutation 3.1, Chu-Xia Deng
• MGI ID: MGI:6406986
• Synonyms: Fgfr2^P253R
• Gene: Fgfr2 Location: Chr7:129764181-129868538 bp, - strand Genetic Position: Chr7, 73.19 cM
• Alliance: Fgfr2^tm3.1Cxd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:283626
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A proline to arginine substitution at amino acid 253 (P253R) was introduced into exon 7 and a loxP-flanked neomycin selection cassette was inserted in intron 6. The selection cassette was removed via cre-mediated recombination. (J:283626)

Disease models

Expression

In Structures Affected by this Mutation:

12 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 Fgfr2 Mutation: 90 strains or lines available

References

• Original: J:283626 Yin L, et al., A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis. Bone. 2008 Apr;42(4):631-43
• All: 1 reference(s)