A lacZ reporter gene and neomycin resistance cassette replaced part of exon 6 and exon 7, encoding the Arg200 that is essential for the S1P export activity. RT-PCR confirmed the absence of protein expression in the brain, liver, small intestine and stomach. (J:225108)
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