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| Status |
Public on Dec 15, 2013 |
| Title |
Retinas from the Pex1-G844D mouse model of Zellweger spectrum disorder |
| Organism |
Mus musculus |
| Experiment type |
Expression profiling by array
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| Summary |
Gene expression analysis of retinas from a mouse model of the mild form of Zellweger spectrum disorder (ZSD). Mice homozygous for the hypomorphic Pex1-G844D allele, the murine ortholog of the human PEX1-G843D mutation found in a subset of patients with autosomal recessive ZSD, develop phenotypes found in humans with a milder form of ZSD, including retinal degeneration and vision loss. Similar to humans, mice heterozygous for the hypomorphic Pex1-G844D allele do not display age-related retinal abnormalities.
We conducted a comparative analysis of retinal gene expression profile from Pex1-G844D homozygous and heterozygous mice in order to investigate the pathomechanisms of vision loss in humans with mild forms of ZSD.
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| Overall design |
Whole retinas were obtained from 4 mice homozygous and 4 mice heterozygous for the hypomorphic Pex1-G844D allele, the murine ortholog of the human PEX1-G843D mutation found in a subset of patients with autosomal recessive Zellweger spectrum disorder (ZSD). The former group of animals show abnormal age-related related retinal degeneration due to peroxisome assembly defect resulting from having two copies of the hypomorphic Pex1-G844D allele. The latter group of animals display no evidence of abnormal age-related retinal degeneration due to the presence of one wild type copy of the Pex1 gene. The overall goal was to identify differentially expressed genes between mice homozygous and heterozygous for the hypomorphic Pex1-G844D allele that are informative of the pathomechanisms of age-related retinal degeneration in the former group.
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| Contributor(s) |
Hacia JG, Steinberg SJ |
| Citation(s) |
24503136 |
| Submission date |
Nov 13, 2013 |
| Last update date |
May 04, 2018 |
| Contact name |
Joseph Gerard Hacia |
| E-mail(s) |
hacia@hsc.usc.edu
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| Phone |
323-442-3030
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| Organization name |
University of Southern California
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| Department |
Biochemistry and Molecular Biology
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| Lab |
Hacia Lab
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| Street address |
2250 Alcazar Street, IGM 261
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| City |
Los Angeles |
| State/province |
CA |
| ZIP/Postal code |
90089 |
| Country |
USA |
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| Platforms (1) |
| GPL8321 |
[Mouse430A_2] Affymetrix Mouse Genome 430A 2.0 Array |
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| Samples (8)
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| GSM1263789 |
Pex1-G844D heterozygote control retina, biological replicate 1 |
| GSM1263790 |
Pex1-G844D heterozygote control retina, biological replicate 2 |
| GSM1263791 |
Pex1-G844D heterozygote control retina, biological replicate 3 |
| GSM1263792 |
Pex1-G844D heterozygote control retina, biological replicate 4 |
| GSM1263793 |
Pex1-G844D homozygote control retina, biological replicate 1 |
| GSM1263794 |
Pex1-G844D homozygote control retina, biological replicate 2 |
| GSM1263795 |
Pex1-G844D homozygote control retina, biological replicate 3 |
| GSM1263796 |
Pex1-G844D homozygote control retina, biological replicate 4 |
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| Relations |
| BioProject |
PRJNA227465 |
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