title: Neurological manifestations of knockout mice with beta-galactosidase deficiency.
abstract: We succeeded in producing the beta-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 GMI-gangliosidosis, and is useful for studies of its pathogenesis and treatment.
authors.affiliation: Department of Veterinary Science, National Institute of Health, Tokyo, Japan. jmatsuda@nih.go.jp
authors.forename: J
authors.initials: J
authors.lastname: Matsuda
authors.forename: O
authors.initials: O
authors.lastname: Suzuki
authors.forename: A
authors.initials: A
authors.lastname: Oshima
authors.forename: A
authors.initials: A
authors.lastname: Ogura
authors.forename: M
authors.initials: M
authors.lastname: Naiki
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D005260:Female; D016537:Gangliosidosis, GM1 / Q000235:genetics*; D005838:Genotype; D006720:Homozygote; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D008818:Mice, Neurologic Mutants; D016296:Mutagenesis / Q000502:physiology; D001616:beta-Galactosidase / Q000172:deficiency* / Q000235:genetics*
chemical_list: D001616:beta-Galactosidase