A targeting vector was designed using the self-excisable pACN cassette. The vector contained a neomycin resistance gene cassette and a bovine growth hormone polyA sequence, plus a stop codon at the end of exon 8. The neo cassette was excised upon germ-line transmission, leaving the stop codon in exon 8. However, there is a 129S6/SvEvTac-specific 25 bp deletion (Disc1del) in exon 6 and the resultant premature termination in exon 7 takes precedence over and overrides the effect of the artificial premature termination codon in the adjacent exon 8. RT-PCR confirmed the truncated transcript from mutant brain. It was unclear if protein was created as a prominent ~62 kDa signal may have masked the ~58 kDa mutant protein. However, the results of protein analysis in Western blots from brain extracts were consistent with truncation in exon 7. (J:107244)
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