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We have generated mouse models of human Tay-Sachs and Sandhoff diseases by targeted disruption of the  Hexa  (α subunit) or  Hexb  (β subunit) genes, respectively, encoding lysosomal β-hexosaminidase A (structure, α) and B (structure, ββ). Both mutant mice accumulate G M2  ganglioside in brain, much more so in  Hexb  −/− mice, and the latter also accumulate glycolipid G A2 .  Hexa  −/− mice suffer no obvious behavioral or neurological deficit, while  Hexb  −/− mice develop a fatal neurodegenerative disease, with spasticity, muscle weakness, rigidity, tremor and ataxia. The  Hexb  −/− but not the  Hexa  −/− mice have massive depletion of spinal cord axons as an apparent consequence of neuronal storage of G M2 . We propose that  Hexa  −/− mice escape disease through partial catabolism of accumulated G M2  via G A2  (asialo-G M2 ) through the combined action of sialidase and β-hexosaminidase B.

Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases