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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Single point
--
1
38
52

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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