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Targeted Allele Detail
Symbol: Fgfr2tm3Ewj
Name: fibroblast growth factor receptor 2; targeted mutation 3, Ethylin Wang Jabs
MGI ID: MGI:5450938
Synonyms: Fgfr2Y394C
Gene: Fgfr2  Location: Chr7:130162451-133123350 bp, - strand  Genetic Position: Chr7, 73.19 cM
Fgfr2tm3Ewj/Fgfr2+ mice have cutis gyrata, acanthosis, skull synostosis, and other abnormalities

Show the 5 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:190491
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted
Mutations:    Insertion, Single point mutation
Mutation detailsThe targeting construct contained Fgfr2 exons IIa, IIb, IIIc, and exon 10, which codes for the transmembrane domain, a floxed neo cassette, and an A to G transition resulting in the amino acid substitution of Y for C at position 394 (Y394C) in exon 10. This mutation is analogous to the Y375C substitution in humans. The neo cassette was removed via cre-mediated recombination. (J:190491)
Generation of the Fgfr2tm3Ewj allele
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  20 strains or lines available
Original:  J:190491 Wang Y, et al., p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice. J Clin Invest. 2012 Jun 1;122(6):2153-64
All:  1 reference(s)

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