Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Fgfr2tm3Ewj Name: fibroblast growth factor receptor 2; targeted mutation 3, Ethylin Wang Jabs MGI ID: MGI:5450938 Synonyms: Fgfr2Y394C Gene: Fgfr2  Location: Chr7:129764181-129868538 bp, - strand  Genetic Position: Chr7, 73.19 cM Alliance: Fgfr2tm3Ewj page

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 details: The 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 and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

12 anatomical structure(s)

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:	88 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)