Fgfr2^tm3Ewj
Targeted Allele Detail

Summary

• Symbol: Fgfr2^tm3Ewj
• Name: fibroblast growth factor receptor 2; targeted mutation 3, Ethylin Wang Jabs
• MGI ID: MGI:5450938
• Synonyms: Fgfr2^Y394C
• Gene: Fgfr2 Location: Chr7:129764181-129868538 bp, - strand Genetic Position: Chr7, 73.19 cM
• Alliance: Fgfr2^tm3Ewj page

Fgfr2^tm3Ewj/Fgfr2⁺ mice have cutis gyrata, acanthosis, skull synostosis, and other abnormalities

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

Mutation origin

• 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⁺

Mutation description

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 Fgfr2^tm3Ewj allele

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: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)