The splice acceptor of exon 3 was duplicated along with 147 bp of coding region and fused to a Hprt containing vector creating a null allele. Targeted mutagenesis was confirmed by RT-PCR for the presence of exons 1, 2 and 3 but the absence of an expressed RNA segment between exons 2 and 3. Radiolabeled ligand (mamba intestinal toxin 1) was also used to confirm the absence of functional protein. (J:119071)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count