| 12752 |
Q61124 |
CLN3_MOUSE |
Battenin (Protein CLN3) |
DISRUPTION PHENOTYPE |
Embryos are viable and fertile and by 12 months of age do not exhibit obvious clinical signs but have significantly shortened life spans (PubMed:10527801, PubMed:17962032). Mice show elevation of lysosomal enzymes in brain and accumulation of autofluorescent storage material in neurons, retina and other cell types that increases with age (PubMed:10527801, PubMed:10440905, PubMed:17962032, PubMed:17855597). They also show neuropathological abnormalities with loss of certain cortical interneurons and hypertrophy of many interneuron populations in the hippocampus (PubMed:10527801). Moreover display progressive neurological deficits, including impaired motor function, decreased overall activity, acquisition of resting tremors, and increased susceptibility to pentilentetrazole-induced seizures (PubMed:17855597). Mice exhibit progressively impaired inner retinal function, altered pupillary light reflexes, losses of inner retinal neurons, and reduced brain mass. Mice show behavioral changes including reduced spontaneous activity levels and impaired learning and memory (PubMed:17962032). Cln3 hypomorphic mutant mice, harboring the ~1 kb common juvenile neuronal ceroid lipofuscinosis (JNCL) mutation, express multiple Cln3 mRNA splice variants and mutant battenin protein. Homozygous Cln3 mice exhibit a progressive JNCL-like disease, with perinatal onset of subunit c of ATP synthasedeposition in many cell types and later onset of neuronal dysfunction and behavioral deficits (PubMed:12374761). Can serve as an animal model for studying neuronal ceroid lipofuscinosis 3/Batten disease (PubMed:10527801, PubMed:10440905, PubMed:17962032, PubMed:12374761). {ECO:0000269|PubMed:10440905, ECO:0000269|PubMed:10527801, ECO:0000269|PubMed:12374761, ECO:0000269|PubMed:17855597, ECO:0000269|PubMed:17962032}. |