GM1-gangliosidosis is classified three forms: infantile, juvenile and adult, according to the age of onset or clinical manifestation. Each clinical form has a human β-Gal gene mutation. GalB mice express mutant human β-Gal R201C found in infantile form. BK mice were produced by introducing human β-Gal R201C gene into β-Gal KO (BKO) mice. This strain is useful for GM1-gangliosidosis juvenile form model and used for new therapy development by chemical chaperone.
- Matsuda J, Suzuki O, Oshima A, Yamamoto Y, Noguchi A, Takimoto K, Itoh M, Matsuzaki Y, Yasuda Y, Ogawa S, Sakata Y, Nanba E, Higaki K, Ogawa Y, Tominaga L, Ohno K, Iwasaki H, Watanabe H, Brady RO, and Suzuki Y. (2003) Chemical chaperone therapy for brain pathology in GM1-gangliosidosis. Proc. Natl. Acad. Sci. U.S.A. 100(26):15912-7. [PMID:14676316]