Part of exon 2, which contains the active site cysteine critical for enzyme activity, and part of intron 3 were deleted by homologous recombination and replaced by a cassette comprising an independent ribosomal entry sequence (IRES), followed by a lacZ reporter gene and a neomycin cassette. Disruption of the gene was confirmed by RT-PCR and Western blot analyses. (J:157541)
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