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| Nomenclature |
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Symbol:
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Fgfr3tm3.1Cxd
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Name:
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fibroblast growth factor receptor 3;
targeted mutation 3.1, Chu-Xia Deng
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MGI ID: |
MGI:2135673 |
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Synonyms: |
Fgfr3369, Fgfr3G369C |
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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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Smaller body size, dome-shaped heads and reduced bone density in Fgfr3tm3.1Cxd/Fgfr3tm3.1Cxd and Fgfr3tm3.1Cxd/Fgfr3+ mice
Show the 4 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:69849
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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 369 from one encoding glycine to one encoding cysteine. A loxP flanked neomycin cassette inserted into an adjacent intron was removed via Cre mediated recombination in this derivative of Fgfr3tm3Cxd. (J:69849)
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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:69849
Chen L et al.,
"Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis."
J Clin Invest 1999 Dec;104(11):1517-25
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All: |
3 reference(s)
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