Fgfr2^tm4Lni
Targeted Allele Detail

Summary

• Symbol: Fgfr2^tm4Lni
• Name: fibroblast growth factor receptor 2; targeted mutation 4, Peter Lonai
• MGI ID: MGI:3053095
• Synonyms: Fgfr2c^C342Y
• Gene: Fgfr2 Location: Chr7:129764181-129868538 bp, - strand Genetic Position: Chr7, 73.19 cM
• Alliance: Fgfr2^tm4Lni page

Synarthroses and trachea/lung defects in AlleleSymbol(MGI:3053095|0)/Fgfr2^tm4Lni neonates.

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:92433
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: A C342Y replacement was inserted into exon 9 (the IIIc exon) and a floxed neo into intron 9. Mating with mice expressing cre in the germ line excised the floxed neo. (J:92433)

Disease models

Expression

In Mice Carrying this Mutation:	14 assay results
In Structures Affected by this Mutation:	18 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Fgfr2 Mutation: 90 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: Craniosynostosis J: 235329.

References

• Original: J:92433 Eswarakumar VP, et al., A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis. Proc Natl Acad Sci U S A. 2004 Aug 24;101(34):12555-60
• All: 16 reference(s)