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| Nomenclature |
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Symbol:
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Fgfr2tm1Ewj
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Name:
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fibroblast growth factor receptor 2;
targeted mutation 1, Ethylin Wang Jabs
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MGI ID: |
MGI:3603464 |
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Synonyms: |
Fgfr2NeoS252W, Fgfr2S252Wflox |
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Gene:
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Fgfr2
Location:
Chr7:130162451-133123350 bp, - strand
Genetic Position: Chr7,
73.19 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:101174
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Fgfr2 Mutation:
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18 strains or lines available |
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| References |
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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
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All: |
8 reference(s)
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Analysis Tools
