Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Tumor data | Find Mice (IMSR) | References

Symbol:	Braftm1Cpri
Name:	Braf transforming gene; targeted mutation 1, Catrin Pritchard
MGI ID:	MGI:3612533
Synonyms:	LSL-B-rafV600E, LSL-BRAFV600E, V600E
Gene:	Braf  Location: Chr6:39580171-39702397 bp, - strand  Genetic Position: Chr6, 18.43 cM
Alliance:	Braftm1Cpri page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

9 anatomical structure(s)

List all tumor models in MMHCdb carrying Braftm1Cpri

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:	58 strains or lines available

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:	52 reference(s)