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Allele : Braf<tm1Bbd> Braf transforming gene; targeted mutation 1, Mariano Barbacid

Primary Identifier  MGI:4946645 Allele Type  Targeted
Attribute String  Conditional ready, Humanized sequence, Hypomorph Gene  Braf
Transmission  Germline Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Insertion,
  • Single point mutation
  • synonyms:
  • B-Raf<LSLV600E>,
  • B-Raf<LSLV600E>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

7 Publication categories

Trail: Allele