Exons 2, 3, and 4 were replaced with a PGK-neomycin cassette. The replaced sequence includes sequences encoding the signal sequence, propolypeptide, and N-terminal 54 amino acids. RT-PCR demonstrated the absence of transcript. (J:65655)
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