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| Nomenclature |
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Symbol:
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Fgfr2tm3Ewj
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Name:
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fibroblast growth factor receptor 2;
targeted mutation 3, Ethylin Wang Jabs
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MGI ID: |
MGI:5450938 |
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Synonyms: |
Fgfr2Y394C |
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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:190491
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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, Single point mutation |
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Mutation details: The targeting construct contained Fgfr2 exons IIa, IIb, IIIc, and exon 10, which codes for the transmembrane domain, a floxed neo cassette, and an A to G transition resulting in the amino acid substitution of Y for C at position 394 (Y394C) in exon 10. This mutation is analogous to the Y375C substitution in humans. The neo cassette was removed via cre-mediated recombination. (J:190491)
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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:190491
Wang Y et al.,
"p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice."
J Clin Invest 2012 Jun 1;122(6):2153-64
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All: |
1 reference(s)
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Analysis Tools
