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Fgfr2tm2Cxd
Targeted Allele Detail
Nomenclature
Symbol: Fgfr2tm2Cxd
Name: fibroblast growth factor receptor 2; targeted mutation 2, Chu-Xia Deng
MGI ID: MGI:3604072
Synonyms: Fgfr2neo250, Fgfr2Neo-S252W
Gene: Fgfr2  Location: Chr7:130162451-133123350 bp, - strand  Genetic Position: Chr7, 73.19 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:101385
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Conditional ready, Hypomorph)
Mutation:    Nucleotide substitutions
 
Mutation detailsA targeting vector containing a GG substitution resulted in a Ser250Trp mutation in exon 7. A floxed neo was inserted upstream of exon 7. This allele was a hypomorph, expressed only in significantly reduced levels. Removal of the floxed neo restores expression levels. (J:101385)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 17 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
References
Original:  J:101385 Chen L, et al., A Ser250Trp substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis. Bone. 2003 Aug;33(2):169-78
All:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/19/2018
MGI 6.12
The Jackson Laboratory