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| Nomenclature |
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Symbol:
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Fgfr3tm1.1Iwa
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Name:
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fibroblast growth factor receptor 3;
targeted mutation 1.1, Tomoko Iwata
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MGI ID: |
MGI:2388062 |
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Synonyms: |
Fgf3K644M, SADDAN |
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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:70061
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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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Mutation: | |
Nucleotide substitutions |
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Mutation details: Fgfr3tm1Iwa animals carry a lysine to methionine substitution at residue 644 (K644M) of exon 10 and a floxed neo cassette in intron 10. The neo cassette was removed by crossing Fgfr3tm1Iwa mutants to the cre expressing line, TgN(EIIa-cre)C5379Lmgd. Northern blot analysis of brain RNA from mutant animals showed a similar level of gene expression as wild-type. (J:70061)
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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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Notes |
Phenotypic Similarity to Human Syndrome: Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans; SADDAN (J:70061)
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| References |
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Original: |
J:70061
Iwata T et al.,
"Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice."
Hum Mol Genet 2001 Jun 1;10(12):1255-64
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All: |
2 reference(s)
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Analysis Tools
