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Targeted Allele Detail
Symbol: Raf1tm1.1Bgn
Name: v-raf-leukemia viral oncogene 1; targeted mutation 1.1, Benjamin G Neel
MGI ID: MGI:5003364
Synonyms: Raf1L613V, Raf1tm1.1Ara
Gene: Raf1  Location: Chr6:115618067-115676635 bp, - strand  Genetic Position: Chr6, 53.62 cM, cytoband C3
Raf1tm1.1Bgn/Raf1+ mice show multiple Noonan syndrome phenotypes including short stature, facial dysmorphia and splenomegaly

Show the 4 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:172034
Parent Cell Line:  G4 (ES Cell)
Strain of Origin:  (129S6/SvEvTac x C57BL/6NCrl)F1
Allele Type:    Targeted (Not Specified)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsA 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)
Generation of the Raf1tm1.1Bgn allele
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 13 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Raf1 Mutation:  102 strains or lines available
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
All:  4 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
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