Braf^tm1Cpri
Targeted Allele Detail

Summary

• Symbol: Braf^tm1Cpri
• Name: Braf transforming gene; targeted mutation 1, Catrin Pritchard
• MGI ID: MGI:3612533
• Synonyms: LSL-B-raf^V600E, LSL-BRAFV600E, V600E
• Gene: Braf Location: Chr6:39580171-39702397 bp, - strand Genetic Position: Chr6, 18.43 cM
• Alliance: Braf^tm1Cpri page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:104375
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, No functional change)
• Mutations: Insertion, Single point mutation
• Mutation details: A targeting vector was designed to insert an ENSMUST00000002487:c.1910T>A mutation (leading to a p.V637E substitution) into exon 18 (ENSMUST00000101497 exon 15). A loxP site, a minigene (cDNA sequence encoding exons 15-18 (last exon) of wild-type Braf splice variant ENSMUST00000101497 with alpha-globin splice acceptor sequences at the 5' end and alpha-globin pol(A) signal sequences at the 3' end), and a loxP site flanked neomycin resistance gene cassette were inserted into intron 17. Upon cre expression, the minigene-STOP-neo cassette is deleted, enabling expression of the mutated sequence. This mutation increases the kinase activity of the protein and is the equivalent of the human c.1799T>A (p.V600E) mutation, the most common oncogenic mutation in BRAF. (J:104375)

Disease models

Expression

In Structures Affected by this Mutation:

9 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Braf^tm1Cpri

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Braf Mutation: 60 strains or lines available

References

• Original: J:104375 Mercer K, et al., Expression of endogenous oncogenic V600EB-raf induces proliferation and developmental defects in mice and transformation of primary fibroblasts. Cancer Res. 2005 Dec 15;65(24):11493-500
• All: 53 reference(s)