A targeting vector containing a PGK-neo was inserted into exon 1, 30 bp downstream from the ATG. Northern and Western blot analyses confirmed disruption of transcript and protein, respectively, from exon 1. A transcript was found that appeared to result from the fusion of exon 2 to 403 bp from the 3' end of the intron instead of to the neo transcript. A truncated protein was also found at significantly reduced levels than wild-type. (J:98334)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count