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Targeted Allele Detail
Symbol: Fgfr2tm1Ewj
Name: fibroblast growth factor receptor 2; targeted mutation 1, Ethylin Wang Jabs
MGI ID: MGI:3603464
Synonyms: Fgfr2NeoS252W, Fgfr2S252Wflox
Gene: Fgfr2  Location: Chr7:130162451-133123350 bp, - strand  Genetic Position: Chr7, 73.19 cM
Skull analysis of Fgfr2tm2Ewj/Fgfr2+ Tg(EIIa-cre)C5379Lmgd/0 and Fgfr2tm1Ewj/Fgfr2+ Tg(EIIa-cre)C5379Lmgd/0 mice

Show the 1 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:101174
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Hypomorph, Modified isoform(s))
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsA targeting vector containing a 755-756 CA to GG substitution resulted in a Ser252Trp mutation in exon IIIa. A floxed neo was inserted into intron IIIa (exon 7). This allele was a hypomorph and either was not expressed or expressed in reduced levels. Expression of alternative transcripts IIIb and IIIc were reduced by 16% to 41% compared to normal transcripts in multiple tissues tested. (J:101174)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 30 anatomical structures
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:  52 strains or lines available
Original:  J:101174 Wang Y, et al., Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. Development. 2005 Aug;132(15):3537-48
All:  11 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
The Jackson Laboratory