Raf1^tm1.1Bgn
Targeted Allele Detail

Summary

• Symbol: Raf1^tm1.1Bgn
• Name: v-raf-leukemia viral oncogene 1; targeted mutation 1.1, Benjamin G Neel
• MGI ID: MGI:5003364
• Synonyms: Raf1^L613V, Raf1^tm1.1Ara
• Gene: Raf1 Location: Chr6:115595530-115653596 bp, - strand Genetic Position: Chr6, 53.62 cM, cytoband C3
• Alliance: Raf1^tm1.1Bgn page

Raf1^tm1.1Bgn/Raf1⁺ mice show multiple Noonan syndrome phenotypes including short stature, facial dysmorphia and splenomegaly

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:172034
• Parent Cell Line: G4 (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6NCrl)F1

Mutation description

Allele Type: Targeted (Not Specified) Mutations: Insertion, Nucleotide substitutions 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 leucine 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 Raf1^tm1.1Bgn allele

Disease models

Expression

In Structures Affected by this Mutation:

11 anatomical structure(s)

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: 116 strains or lines available

References

• 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: 7 reference(s)