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Series GSE6678 Query DataSets for GSE6678
Status Public on Jan 09, 2007
Title Palmitoyl protein thioesterase-1 knockout mice hofma-affy-mouse-370000
Organism Mus musculus
Experiment type Expression profiling by array
Summary Infantile neuronal ceroid lipofuscinosis (aka infantile Batten disease) is a severe neurodegenerative disorder of early childhood characterized by cortical atrophy, blindness and seizures, leading to premature death in the first decade. The disorder is caused by deficiency in a soluble lysosomal enzyme, palmitoyl protein thioesterase-1 (PPT1). PPT1 knockout mice faithfully reproduce the features of the human disease, with motor deterioration, blindness, seizures, and death before 10 months of age. The progression of events leading from enzyme deficiency to organ failure is poorly defined. The neuronal ceroid lipofuscinoses are of particular interest because of the similarities between the accumulated material and lipofuscin that is associated with normal aging.
We will determine changes in gene expression that occur during the course of neurodegeneration in PPT1 knockout as compared to control mice.
Gene expression profiling of brain tissue from PPT1 knockout mice as compared to normal controls will provide insights into the mechanism of neurodegeneration. Comparison of this profile with gene expression profiles associated with normal aging may provide insights into the contribution of lipofuscin to aging and neurodegeneration.
PPT1 knockout mice on a C57BL/6 background will be sacrificed under CO2 and whole brains removed and frozen under liquid nitrogen. Three mice will be used for each time point. Data points will be collected at 3 months, 5 months and 8 months of age. Normal age- and sex-matched C57BL/6 mice will be used as controls.
Keywords: gene knockout
Contributor(s) Hofmann SL
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Submission date Jan 08, 2007
Last update date Feb 11, 2019
Contact name Winnie Liang
Organization name Translational Genomics
Street address 445 N. Fifth Street
City Phoenix
State/province AZ
ZIP/Postal code 85012
Country USA
Platforms (1)
GPL1261 [Mouse430_2] Affymetrix Mouse Genome 430 2.0 Array
Samples (18)
GSM154337 brain, cochlea: [1] Sample #1_le1
GSM154338 brain, cochlea: [2] Sample #2_le1
GSM154339 brain, cochlea: [3] Sample #3_le1
BioProject PRJNA98609

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SOFT formatted family file(s) SOFTHelp
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Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE6678_RAW.tar 61.6 Mb (http)(custom) TAR (of CEL)
Raw data provided as supplementary file

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