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Article

An inducible mouse model of late onset Tay-Sachs disease.

Neurobiology of disease - 1 Aug 2002

Jeyakumar Mylvaganam, Smith David, Eliott-Smith Elena, Cortina-Borja Mario, Reinkensmeier Gabriele, Butters Terry D, Lemm Thorsten, Sandhoff Konrad, Perry V Hugh, Dwek Raymond A, Platt Frances M

Abstract excerpt

Mouse models of the G(M2) gangliosidoses, Tay-Sachs and Sandhoff disease, are null for the hexosaminidase alpha and beta subunits respectively. The Sandhoff (Hexb-/-) mouse has severe neurological disease and mimics the human infantile onset variant. However, the Tay-Sachs (Hexa-/-) mouse model lacks an overt phenotype as mice can partially bypass the blocked catabolic pathway and escape disease. We have...

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Identifiers

PMID: 12270683
DOI: 10.1006/nbdi.2002.0511

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Source receipt: pubmed, retrieved 7 Sept 2026.

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