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| Nomenclature |
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Symbol:
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Fgfr3tm2Llm
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Name:
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fibroblast growth factor receptor 3;
targeted mutation 2, Laurence Legeai-Mallet
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MGI ID: |
MGI:5426422 |
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Synonyms: |
Fgfr3neoY367C |
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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:147208
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (Floxed/Frt) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: Exon 9 was replaced with one in which nucleotide substitutions result in the amino acid substitution of cysteine for tyrosine at position 367 (Y367C). This mutation was corresponds to the Y373C mutation in human patients with thanatophoric dysplasia type I and causes ligand independent activation of the receptor. A floxed neo was inserted downstream of exon 9. (J:147208)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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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:147208
Pannier S et al.,
"Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia."
Biochim Biophys Acta 2009 Feb;1792(2):140-7
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All: |
2 reference(s)
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Analysis Tools
