A targeting vector was designed to introduce a nuclear localization signal-tagged lacZ, SV40pA and neo gene into exon 1, immediately upstream of the ATG. PCR revealed a transcript from the PGK promoter, however, Western blot detected a frameshift mutation that rendered the protein nonfunctional. No wild-type transcript or protein was observed in RT-PCR or Western blot of mutants. (J:93327)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count