Article
Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.
PloS one - 1 Jan 2012
Staropoli John F, Haliw Larissa, Biswas Sunita, Garrett Lillian, Hölter Sabine M, Becker Lore, Skosyrski Sergej, Da Silva-Buttkus Patricia, Calzada-Wack Julia, Neff Frauke, Rathkolb Birgit, Rozman Jan, Schrewe Anja, Adler Thure, Puk Oliver, Sun Minxuan, Favor Jack, Racz Ildikó, Bekeredjian Raffi, Busch Dirk H, Graw Jochen, Klingenspor Martin, Klopstock Thomas, Wolf Eckhard, Wurst Wolfgang, Zimmer Andreas, Lopez Edith, Harati Hayat, Hill Eric, Krause Daniela S, Guide Jolene, Dragileva Ella, Gale Evan, Wheeler Vanessa C, Boustany Rose-Mary, Brown Diane E, Breton Sylvie, Ruether Klaus, Gailus-Durner Valérie, Fuchs Helmut, de Angelis Martin Hrabě, Cotman Susan L
Abstract excerpt
Cln3(Δex7/8) 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(Δex7/8) mice. Homozygous Cln3(Δex7/8) mice, congenic on a...
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