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Fgfr2tm3Cxd
Targeted Allele Detail
Nomenclature
Symbol: Fgfr2tm3Cxd
Name: fibroblast growth factor receptor 2; targeted mutation 3, Chu-Xia Deng
MGI ID: MGI:6406985
Synonyms: Fgfr2neo-253, Fgfr2P253R-neo
Gene: Fgfr2  Location: Chr7:130162451-130266808 bp, - strand  Genetic Position: Chr7, 73.19 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:283626
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Conditional ready, Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA proline to arginine substitution at amino acid 253 (P253R) was introduced into exon 7 and a loxP-flanked neomycin selection cassette was inserted in intron 6. (J:283626)
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: 18 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:  22 strains or lines available
References
Original:  J:283626 Yin L, et al., A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis. Bone. 2008 Apr;42(4):631-43
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory