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Targeted Allele Detail
Symbol: Fgfr2tm4Lni
Name: fibroblast growth factor receptor 2; targeted mutation 4, Peter Lonai
MGI ID: MGI:3053095
Synonyms: Fgfr2cC342Y
Gene: Fgfr2  Location: Chr7:130162451-130266808 bp, - strand  Genetic Position: Chr7, 73.19 cM
+/+ wildtype and Fgfr2tm4Lni/+ skull phenotypes and histological sections.

Show the 3 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:92433
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Humanized sequence)
Mutation:    Nucleotide substitutions
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 14 assay results
In Structures Affected by this Mutation: 21 anatomical structures
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:  23 strains or lines available
Phenotypic Similarity to Human Syndrome: Craniosynostosis J: 235329.
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:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.14
The Jackson Laboratory