Using ES cells containing the RMCE-ready Gt(ROSA)26Sortm1Rkuhn allele, the original cassette was exchanged with a vector containing the following elements: an attB site, the CAG promoter, a loxP site flanked puromycin resistance gene cassette, a YFP gene in-frame with a human DROSHA cDNA with a p.E1147K mutation and C-terminal FLAG tag sequences, and a second attB site. The mutated Drosha will only be expressed after cre-mediated deletion of the puro cassette. The mutation is associated with Wilms Tumor and critically affects the metal-binding Drosha needs for its cleaving activity. (J:321428)
Basic Information
(C57BL/6J x 129S6/SvEvTac)F1
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count