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. |