Exon 8, encoding the COOH-terminal domain that is essential for catalytic activity, was disrupted by the insertion of a neomycin selection cassette. Biochemical assays of heart tissue showed lipoprotein lipase activity to be significantly reduced in heterozygous and essentially absent in homozygous mutant mice. (J:25652)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count