Alpl^Hpp

The mutation involves a G to A transition in the donor (consensus) splice site of exon 8 (-5bp into the intron), i.e. 862+5G>A. RT-PCR analysis, using RNA derived from liver and kidney, indicates that the mutation affects splicing. A mutant transcript that lacks exon 8 is predicted to introduce an early stop codon, resulting in a truncated (inactive) protein. However, RT-PCR results indicate that a small amount of normal splicing also occurs in homozygous offspring, suggesting that it is a hypomorphic mutation. (J:122319)