Exons 2 though 4 were replaced with a floxed stop cassette, which included 4 poly adenylation sites and a puromycin resistance cassette, and a VP16 cassette. Exons 2 through 4 encode the transactivating domain. The expected protein cannot be bound by Mdm2 and down-regulated by it. However, the presence of the STOP cassette prevents unrestrained expression of the chimeric protein. (J:131856)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count