A murine model for juvenile NCL: gene targeting of mouse Cln3

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 a...

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Bibliographic Details
Published in:Molecular genetics and metabolism 1999-04, Vol.66 (4), p.309-313
Main Authors: Greene, N D, Bernard, D L, Taschner, P E, Lake, B D, de Vos, N, Breuning, M H, Gardiner, R M, Mole, S E, Nussbaum, R L, Mitchison, H M
Format: Article
Language:English
Subjects:
Animals
Brain - anatomy & histology
Cyclins
Disease Models, Animal
Exons
Fluorescence
Fungal Proteins - metabolism
Gene Library
Gene Targeting
Humans
Membrane Glycoproteins - metabolism
Mice
Models, Genetic
Molecular Chaperones - metabolism
Neuronal Ceroid-Lipofuscinoses - genetics
Saccharomyces cerevisiae Proteins
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Summary: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.
ISSN:1096-7192
DOI:10.1006/mgme.1999.2828