Braf^tm1Bbd
Targeted Allele Detail

Summary

• Symbol: Braf^tm1Bbd
• Name: Braf transforming gene; targeted mutation 1, Mariano Barbacid
• MGI ID: MGI:4946645
• Synonyms: B-Raf^LSLV600E
• Gene: Braf Location: Chr6:39580171-39702397 bp, - strand Genetic Position: Chr6, 18.43 cM
• Alliance: Braf^tm1Bbd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:170095
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: An FRT site and a loxP site flanked hygromycin resistance gene and STOP cassette were inserted in intron 17 (in ENSMUST00000002487), an ENSMUST00000002487:c.1910T>A mutation was created in exon 18 (changing valine codon 637 (GTG) to aspartic acid (GAG) (p.V637E)) and an FRT site was inserted into intron 18. RT-PCR analysis indicates the mutant allele is hypomorphic, expressed at about 5-10% of the level of the wild-type allele. The mutation is the equivalent of the human c.1799T>A (p.V600E) mutation, the most common oncogenic mutation in BRAF. (J:170095)

Disease models

Expression

In Structures Affected by this Mutation:

12 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 Braf Mutation: 58 strains or lines available

References

• Original: J:170095 Urosevic J, et al., Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome. Proc Natl Acad Sci U S A. 2011 Mar 22;108(12):5015-20
• All: 4 reference(s)