A floxed neo cassette was inserted into intron 7. The retention of the neo cassette results in a 55% to 70% decrease in relative full-length transcript expression in homozygotes and a 79% to 84% decrease in heterozygotes. Expression of a truncated transcript was observed, and reduced protein expression was confirmed by western blot analysis. (J:143532)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count