title: A murine model for juvenile NCL: gene targeting of mouse Cln3.
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.
authors: Department of Paediatrics, University College London Medical School, London, WC1E 6JJ, United Kingdom.
authors: N D
authors: ND
authors: Greene
authors: D L
authors: DL
authors: Bernard
authors: P E
authors: PE
authors: Taschner
authors: B D
authors: BD
authors: Lake
authors: N
authors: N
authors: de Vos
authors: M H
authors: MH
authors: Breuning
authors: R M
authors: RM
authors: Gardiner
authors: S E
authors: SE
authors: Mole
authors: R L
authors: RL
authors: Nussbaum
authors: H M
authors: HM
authors: Mitchison
mesh_terms: 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
chemical_list: C079895:CLN3 protein, S cerevisiae; C105199:CLN3 protein, human; D016213:Cyclins; D005656:Fungal Proteins; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D029701:Saccharomyces cerevisiae Proteins