Pex13 Inactivation in the Mouse Disrupts Peroxisome Biogenesis and Leads to a Zellweger Syndrome Phenotype
Open accessAbstract
Zellweger syndrome is the archetypical peroxisome biogenesis disorder and is characterized by defective import of proteins into the peroxisome, leading to peroxisomal metabolic dysfunction and widespread tissue pathology. In humans, mutations in the PEX13 gene, which encodes a peroxisomal membrane protein necessary for peroxisomal protein import, can lead to a Zellweger phenotype. To develop mouse models for this disorder, we have generated a targeted mouse with a loxP-modified Pex13 gene to enable conditional Cre recombinase-mediated inactivation of Pex13. In the studies reported here, we crossed these mice with transgenic mice that express Cre recombinase in all cells to generate progeny with ubiquitous disruption of Pex13. The mutant pups exhibited many of the clinical features of Zellweger syndrome patients, including intrauterine growth retardation, severe hypotonia, failure to feed, and neonatal death. These animals lacked morphologically intact peroxisomes and showed deficient import of matrix proteins containing either type 1 or type 2 targeting signals. Biochemical analyses of tissue and cultured skin fibroblasts from these animals indicated severe impairment of peroxisomal fatty acid oxidation and plasmalogen synthesis. The brains of these animals showed disordered lamination in the cerebral cortex, consistent with a neuronal migration defect. Thus, Pex13(-/-) mice reproduce many of the features of Zellweger syndrome and PEX13 deficiency in humans.
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Several mouse models of the Zellweger spectrum disorders are available, represented by mice with targeted deletions in the genes encoding PEX2, PEX5 or PEX13.
“Currently, several mouse models of the Zellweger spectrum disorders are available, which are represented by mice with targeted deletions in the genes encoding the peroxins PEX2, PEX5 or PEX13 [60–62].”
From Peroxisomes in brain development and function (2016) · cites this paper as [62]
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- Authors
- Maxwell, M., Bjorkman, J., Nguyen, T., Sharp, P., Finnie, J., Paterson, C., Tonks, I., Paton, B. C., Kay, G. F., & Crane, D. I.
- Affiliations
- Griffith University (AU)
- School of Biomolecular and Biomedical Science, Griffith University, Nathan, Brisbane, Queensland 4111
- Women's and Children's Hospital (AU)
- South Australia Pathology (AU)
- QIMR Berghofer Medical Research Institute (AU)
- Corresponding author
- Crane, Denis I.
- Venue
- Molecular and Cellular Biology
- Publisher
- Informa UK Limited
- Published
- 2003-08-01
- Volume
- 23
- Issue
- 16
- Pages
- 5947-5957
- ISSN
- 0270-7306 (ISSN-L)
- 1098-5549
- PMC
- PMC166343
- OpenAlex
- W2109302938
- Cited by
- 110
- References
- 44
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 4 · 2023: 3 · 2022: 5 · 2021: 4 · 2020: 9 · 2019: 6 · 2018: 3 · 2017: 5 · 2016: 5 · 2015: 5 · 2014: 7 · 2013: 4 · 2012: 4
- FWCI
- 2.28
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Molecular and Cellular Biology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Griffith Research Online (submittedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- Funders
- Medical Research Council
- National Health and Medical Research Council (123107)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- PEX13, Zellweger syndrome, peroxisome biogenesis disorders, peroxisomal protein import, conditional knockout mice, peroxisomal fatty acid oxidation, plasmalogen synthesis, neuronal migration defects, fetal growth restriction, hypotonia, peroxisomal membrane proteins
- MeSH terms
- Animals, Base Sequence, Cell Movement, Cerebral Cortex, Disease Models, Animal, Fibroblasts, Liver, Luminescent Proteins, Membrane Proteins, Mice, Transgenic, Microscopy, Electron, Microscopy, Fluorescence, Molecular Sequence Data, Mutation, Neurons, Phenotype, Plasmids, Transcription, Genetic, Protein Biosynthesis, Viral Proteins, Blotting, Northern, Blotting, Western, Zellweger Syndrome, Mice, Knockout, Integrases, Reverse Transcriptase Polymerase Chain Reaction, Peroxisomes, Hepatocytes, Green Fluorescent Proteins, Mice
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