A 2.0-kb portion of exon 3 sequence encoding the catalytic domain common to all three splice variants was deleted via homologous recombination. Northern blot failed to detect transcript in livers from mutant mice. RT-PCR failed to detect transcript in cerebellum and kidney samples from mutants. (J:100533)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count