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Document type:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
Author(s):
Staropoli, JF; Haliw, L; Biswas, S; Garrett, L; Hölter, SM; Becker, L; Skosyrski, S; Da Silva-Buttkus, P; Calzada-Wack, J; Neff, F; Rathkolb, B; Rozman, J; Schrewe, A; Adler, T; Puk, O; Sun, M; Favor, J; Racz, I; Bekeredjian, R; Busch, DH; Graw, J; Klingenspor, M; Klopstock, T; Wolf, E; Wurst, W; Zimmer, A; López, E; Harati, H; Hill, E; Krause, DS; Guide, J; Dragileva, E; Gale, E; Wheeler, VC; Boustany, RM; Brown, DE; Breton, S; Ruether, K; Gailus-Durner, V; Fuchs, H; de Angelis, MH; Cotman, SL 
Title:
Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system. 
Abstract:
Cln3(?ex7/8) mice harbor the most common genetic defect causing juvenile neuronal ceroid lipofuscinosis (JNCL), an autosomal recessive disease involving seizures, visual, motor and cognitive decline, and premature death. Here, to more thoroughly investigate the manifestations of the common JNCL mutation, we performed a broad phenotyping study of Cln3(?ex7/8) mice. Homozygous Cln3(?ex7/8) mice, congenic on a C57BL/6N background, displayed subtle deficits in sensory and motor tasks at 10-14 weeks...    »
 
Journal title abbreviation:
PLoS ONE 
Year:
2012 
Journal volume:
Journal issue:
Pages contribution:
e38310 
Language:
eng 
Print-ISSN:
1932-6203 
TUM Institution:
Institut für Medizinische Mikrobiologie, Immunologie und Hygiene