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| Nomenclature |
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Symbol:
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Raf1tm2.1Ara
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Name:
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v-raf-leukemia viral oncogene 1;
targeted mutation 2.1, Toshiyuki Araki
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MGI ID: |
MGI:5445964 |
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Synonyms: |
Raf1D486N |
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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:189143
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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, Single point mutation |
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Mutation details: a targeting vector containing a loxP site, cDNA spanning exons 13 through 16, neo cassette, second loxP site and modified exon 13 was inserted into intron 12. The modified exon 13 contains nucleotide substitution(s) that result in the amino acid substitution of asparagine for aspartic acid at position 486 (D486N). Cre-mediated recombination removed the cDNA and neo cassette. (J:189143)
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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:189143
Wu X et al.,
"Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants."
Mol Cell Biol 2012 Oct;32(19):3872-90
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All: |
1 reference(s)
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