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Allele : Bap1<em2Test> Brca1 associated protein 1; endonuclease-mediated mutation 2, Joseph R Testa

Primary Identifier  MGI:5817986 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Bap1
Strain of Origin  FVB Is Recombinase  false
Is Wild Type  false
molecularNote  Zinc finger nuclease mediated targeted mutation generated an intron 6 splice site mutation changing exon 7 splice acceptor CAG to CGG (GRCm39:chr14:30976122A>G). This leads to the activation of a cryptic CAG splice site in the 5' end of exon 7 which results in skipping the first 5 bp from that exon, leading to a frameshift and premature stop codon. The mutation is the equivalent of the same human exon 7 splice acceptor mutation found in a family with malignant mesothelioma.
  • mutations:
  • Single point mutation
  • synonyms:
  • Bap1<W>,
  • Bap1<W>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele