Bap1^em2Test

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Species

Mus musculus

Symbol

Bap1^em2Test

Category

allele

Allele of gene

Bap1

Transgenic Constructs

None

Synonyms

• Bap1^W

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations