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| Nomenclature |
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Symbol:
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Fgfr2tm1Schl
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Name:
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fibroblast growth factor receptor 2;
targeted mutation 1, Joseph Schlessinger
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MGI ID: |
MGI:3699313 |
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Synonyms: |
Fgfr2cC342Y |
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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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Crouzon-Like Syndrome characterization, skull scan and histological sections of Fgfr2tm1Schl/Fgfr2+ and Fgfr2tm2Schl/Fgfr2+ mice
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:118299
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Parent Cell Line:
| W9.5/W95 (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: A targeting vector was designed to replace cysteine 342 with a tyrosine in exon 9. A floxed neo was inserted into intron 9 and subsequently removed by cre mediated recombination. (J:118299)
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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:118299
Eswarakumar VP et al.,
"Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis."
Proc Natl Acad Sci U S A 2006 Dec 5;103(49):18603-8
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All: |
4 reference(s)
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Analysis Tools
