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• W2014641941 startingPage "e38310" @default.
• W2014641941 abstract "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 C57BL/6N background, displayed subtle deficits in sensory and motor tasks at 10-14 weeks of age. Homozygous Cln3(Δex7/8) mice also displayed electroretinographic changes reflecting cone function deficits past 5 months of age and a progressive decline of retinal post-receptoral function. Metabolic analysis revealed increases in rectal body temperature and minimum oxygen consumption in 12-13 week old homozygous Cln3(Δex7/8) mice, which were also seen to a lesser extent in heterozygous Cln3(Δex7/8) mice. Heart weight was slightly increased at 20 weeks of age, but no significant differences were observed in cardiac function in young adults. In a comprehensive blood analysis at 15-16 weeks of age, serum ferritin concentrations, mean corpuscular volume of red blood cells (MCV), and reticulocyte counts were reproducibly increased in homozygous Cln3(Δ) (ex7/8) mice, and male homozygotes had a relative T-cell deficiency, suggesting alterations in hematopoiesis. Finally, consistent with findings in JNCL patients, vacuolated peripheral blood lymphocytes were observed in homozygous Cln3(Δ) (ex7/8) neonates, and to a greater extent in older animals. Early onset, severe vacuolation in clear cells of the epididymis of male homozygous Cln3(Δ) (ex7/8) mice was also observed. These data highlight additional organ systems in which to study CLN3 function, and early phenotypes have been established in homozygous Cln3(Δ) (ex7/8) mice that merit further study for JNCL biomarker development." @default.
• W2014641941 created "2016-06-24" @default.
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• W2014641941 date "2012-06-06" @default.
• W2014641941 modified "2023-10-17" @default.
• W2014641941 title "Large-Scale Phenotyping of an Accurate Genetic Mouse Model of JNCL Identifies Novel Early Pathology Outside the Central Nervous System" @default.
• W2014641941 cites W1560487523 @default.
• W2014641941 cites W18144629 @default.
• W2014641941 cites W189183217 @default.
• W2014641941 cites W1965277605 @default.
• W2014641941 cites W1967573348 @default.
• W2014641941 cites W1974359647 @default.
• W2014641941 cites W1975545686 @default.
• W2014641941 cites W1977633435 @default.
• W2014641941 cites W1979742208 @default.
• W2014641941 cites W1980162202 @default.
• W2014641941 cites W1981387155 @default.
• W2014641941 cites W1983365137 @default.
• W2014641941 cites W1993068092 @default.
• W2014641941 cites W1993068662 @default.
• W2014641941 cites W1997384917 @default.
• W2014641941 cites W1997619492 @default.
• W2014641941 cites W1997660876 @default.
• W2014641941 cites W2004000104 @default.
• W2014641941 cites W2005144914 @default.
• W2014641941 cites W2005927103 @default.
• W2014641941 cites W2009284075 @default.
• W2014641941 cites W2011933633 @default.
• W2014641941 cites W2013005253 @default.
• W2014641941 cites W2013666305 @default.
• W2014641941 cites W2015100443 @default.
• W2014641941 cites W2023227782 @default.
• W2014641941 cites W2023512898 @default.
• W2014641941 cites W2024566930 @default.
• W2014641941 cites W2025904049 @default.
• W2014641941 cites W2025927616 @default.
• W2014641941 cites W2026357823 @default.
• W2014641941 cites W2026389758 @default.
• W2014641941 cites W2027937017 @default.
• W2014641941 cites W2028536701 @default.
• W2014641941 cites W2029805131 @default.
• W2014641941 cites W2030283288 @default.
• W2014641941 cites W2032265763 @default.
• W2014641941 cites W2032385834 @default.
• W2014641941 cites W2040801939 @default.
• W2014641941 cites W2042651551 @default.
• W2014641941 cites W2043638634 @default.
• W2014641941 cites W2044143697 @default.
• W2014641941 cites W2044731711 @default.
• W2014641941 cites W2045373134 @default.
• W2014641941 cites W2051483871 @default.
• W2014641941 cites W2053628477 @default.
• W2014641941 cites W2054807808 @default.
• W2014641941 cites W2059092093 @default.
• W2014641941 cites W2060441085 @default.
• W2014641941 cites W2063728852 @default.
• W2014641941 cites W2064404471 @default.

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