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| Nomenclature |
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Symbol:
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Fgfr3tm5.1Cxd
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Name:
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fibroblast growth factor receptor 3;
targeted mutation 5.1, Chu-Xia Deng
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MGI ID: |
MGI:2135677 |
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Synonyms: |
Fgfr3365 |
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Gene:
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Fgfr3
Location:
Chr5:33721724-33737067 bp, + strand
Genetic Position: Chr5,
17.83 cM, cytoband B
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:67780
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Parent Cell Line:
| TC1/TC-1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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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: A point mutation was introduced that altered codon 365 from one encoding serine to one encoding cysteine. A loxP flanked neomycin cassette inserted into an adjacent intron was removed via Cre mediated recombination in this derivative of Fgfr3tm5Cxd. (J:67780)
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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 Fgfr3 Mutation:
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7 strains or lines available |
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| References |
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Original: |
J:67780
Chen L et al.,
"A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia."
Hum Mol Genet 2001 Mar 1;10(5):457-65
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All: |
1 reference(s)
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