Neurological manifestations of knockout mice with β-galactosidase deficiency

We succeeded in producing the β-galactosidase-deficient knockout mouse by gene targeting in embryonic stem cells. The mutant mice developed progressive spastic diplegia within a few months after birth, and died of emaciation at 7–10 months of age. This is an authentic murine model of human GM1-gangliosidosis, and is useful for studies of its pathogenesis and treatment.