| First Author | Jeyakumar M | Year | 2002 |
| Journal | Neurobiol Dis | Volume | 10 |
| Issue | 3 | Pages | 201-10 |
| PubMed ID | 12270683 | Mgi Jnum | J:125673 |
| Mgi Id | MGI:3759388 | Doi | 10.1006/nbdi.2002.0511 |
| Citation | Jeyakumar M, et al. (2002) An inducible mouse model of late onset Tay-Sachs disease. Neurobiol Dis 10(3):201-10 |
| abstractText | 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 investigated whether a subset of Tay-Sachs mice develop late onset disease. We have found that approximately 65% of the mice develop one or more clinical signs of the disease within their natural life span (n = 52, P < 0.0001). However, 100% of female mice with repeat breeding histories developed late onset disease at an earlier age (n = 21, P < 0.0001) and displayed all clinical features. Repeat breeding of a large cohort of female Tay-Sachs mice confirmed that pregnancy induces late onset Tay-Sachs disease. Onset of symptoms correlated with reduced up-regulation of hexosaminidase B, a component of the bypass pathway. |
