Fgfr2^tm1Ewj
Targeted Allele Detail

Summary

• Symbol: Fgfr2^tm1Ewj
• Name: fibroblast growth factor receptor 2; targeted mutation 1, Ethylin Wang Jabs
• MGI ID: MGI:3603464
• Synonyms: Fgfr2^NeoS252W, Fgfr2^S252Wflox
• Gene: Fgfr2 Location: Chr7:129764181-129868538 bp, - strand Genetic Position: Chr7, 73.19 cM
• Alliance: Fgfr2^tm1Ewj page

Skull analysis of Fgfr2^tm2Ewj/Fgfr2⁺ Tg(EIIa-cre)C5379Lmgd/0 and Fgfr2^tm1Ewj/Fgfr2⁺ Tg(EIIa-cre)C5379Lmgd/0 mice

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

Mutation origin

• 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⁺

Mutation description

• Allele Type: Targeted (Hypomorph, Modified isoform(s))
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A 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)

Disease models

Expression

In Mice Carrying this Mutation:	1 assay results 2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	32 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: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: 18 reference(s)