The insertion of a neomycin selection cassette disrupted exon 2, which encodes the 5' untranslated region, the start codon, and the majority of the signal peptide. Northern blot and RT-PCR analyses identified an aberrant transcript in which exon 1 had spliced to exon 3. In vitro studies of the protein generated from a start codon in exon 3 of this transcript showed improper localization and post-translational processing. Specifically, cell surface expression of the mutant protein was reduced and it was largely unglycosylated. (J:65199)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count