The gene was disrupted by insertion of a neo cassette into exon 6 via homologous recombination resulting in a premature stop codon and protein truncation. Enzyme assays of brain and liver extracts from mutant mice demonstrated background levels of enzyme activity. Western blot and immunohistochemical analyses failed to detect protein product. (J:43648)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count