A beta-galactosidase and neomycin resistance cassette replaced exon 1. RT-PCR confirmed the absence of protein expression in cerebrum, cerebellum, pancreas, heart, liver, kidney, lung, intestine, stomach, spleen and muscle. (J:114853)
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