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 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.
Greene
N D
ND
Department of Paediatrics, University College London Medical School, London, WC1E 6JJ, United Kingdom.
Bernard
D L
DL
Taschner
P E
PE
Lake
B D
BD
de Vos
N
N
Breuning
M H
MH
Gardiner
R M
RM
Mole
S E
SE
Nussbaum
R L
RL
Mitchison
H M
HM
D000818:Animals; D001921:Brain / Q000033:anatomy & histology; D016213:Cyclins; D004195:Disease Models, Animal; D005091:Exons; D005453:Fluorescence; D005656:Fungal Proteins / Q000378:metabolism; D015723:Gene Library; D018390:Gene Targeting; D006801:Humans; D008562:Membrane Glycoproteins / Q000378:metabolism; D051379:Mice; D008957:Models, Genetic; D018832:Molecular Chaperones / Q000378:metabolism; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D029701:Saccharomyces cerevisiae Proteins
C079895:CLN3 protein, S cerevisiae; C105199:CLN3 protein, human; D016213:Cyclins; D005656:Fungal Proteins; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D029701:Saccharomyces cerevisiae Proteins