Beta-galactosidase

 Progressive spastic diplegia (in a few months after birth)
 PAAS-positive intacytoplasmic storage in neuronal cells of various areas in the brain
 Marked accumulation of ganglioside GM1 and asialo GM1 in brain tissue
 Death of emaciation at 7-10 months of age

Reference:

Matsuda J., Suzuki O., Oshima A., Ogura A., Noguchi Y., Yamamoto Y., Asano T., Takimoto K., Sukegawa K., Suzuki Y., Naiki M.: Beta-galactosidase-dificient mouse as an animal model for GM1-gangliiiosidosis. Glycoconj J 1997 Sep;14 (6):729-736.


Database link:

MEDLINE Citations