LacZ with a SV40 nuclear localization signal and PGK-Neo (in reverse orientation) were inserted inframe with the ATG start codon and replaced exon 1. PCR confirmed absence of transcript. Positive nuclear beta-gal was seen in the retina, prostate, skin, bladder, testis, lung and brain of adults. (J:216357)
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