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| Nomenclature |
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Symbol:
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Raf1tm1.1Bgn
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Name:
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v-raf-leukemia viral oncogene 1;
targeted mutation 1.1, Benjamin G Neel
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MGI ID: |
MGI:5003364 |
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Synonyms: |
Raf1L613V, Raf1tm1.1Ara |
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Gene:
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Raf1
Location:
Chr6:115618067-115676635 bp, - strand
Genetic Position: Chr6,
53.62 cM, cytoband C3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:172034
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Parent Cell Line:
| G4 (ES Cell) |
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Strain of Origin:
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(129S6/SvEvTac x C57BL/6NCr)F1
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: A floxed cDNA of exons 13 through 16 and a neo cassette were inserted upstream of exon 13. Exon 16 was replaced with one in which nucleotide substitutions result in the amino acid substitution of valine for lysine at position 613 (L613V). Cre-mediated recombination removed the cDNA and neo cassette. The amino acid substitution is a kinase activating mutation associated with Noonan syndrome. (J:172034)
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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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| References |
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Original: |
J:172034
Wu X et al.,
"MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation."
J Clin Invest 2011 Mar 1;121(3):1009-25
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All: |
2 reference(s)
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Analysis Tools
