A PGK-neo cassete replaced exon 23 (previously called exon 21), which encodes the second RNase III domain. The splice donor and acceptor sites were left intact to further the potential of a null allele by permitting the incorporation of the neo cassette, and thus stop codons in all three reading frames, into the message. (J:86391)
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