| Literature DB >> 10191119 |
N D Greene1, D L Bernard, P E Taschner, B D Lake, N de Vos, M H Breuning, R M Gardiner, S E Mole, R L Nussbaum, H M Mitchison.
Abstract
JNCL is a neurodegenerative disease of childhood caused by mutations in the CLN3 gene. A mouse model for JNCL was created by disrupting exons 1-6 of Cln3, resulting in a null allele. Cln3 null mice appear clinically normal at 5 months of age; however, like JNCL patients, they exhibit intracellular accumulation of autofluorescent material. A second approach will generate mice in which exons 7 and 8 of Cln3 are deleted, mimicking the common mutation in JNCL patients. Copyright 1999 Academic Press.Entities:
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Year: 1999 PMID： 10191119 DOI： 10.1006/mgme.1999.2828
Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797