RMCE on KH2 cells inserted a cassette, which contained a tetracycline response element driving doxycycline-inducible expression of the human cDNA with nucleotide substitutions that result in the amino acid substitution of alanine for serine at position 127 (S127A), into the 3'UTR. This mutation produces a protein with increased nuclear localization and transcriptional activity compared with the wild-type protein. (J:141457)
Basic Information
(C57BL/6 x 129S4/SvJae)F1
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count