ArticleMammalian genome : official journal of the International Mammalian Genome Society2004
The neurological mutant quaking(viable) is Parkin deficient.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 46 citations in OpenAlex.
- Formation of seeding-competent α-synuclein aggregates in parkin-deficient iPSC-derived human neurons.NPJ Parkinson's disease · 2025Article
- The Quaking RNA-binding proteins as regulators of cell differentiation.Wiley interdisciplinary reviews. RNA · 2022Review
- New Era of Mapping and Understanding Common Fragile Sites: An Updated Review on Origin of Chromosome Fragility.Frontiers in genetics · 2022Review
- Animal Models of Autosomal Recessive Parkinsonism.Biomedicines · 2021Review
- Interaction between Parkin andCells · 2021Review
- Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line.Scientific reports · 2018Article
- Decreased long-chain acylcarnitines from insufficient β-oxidation as potential early diagnostic markers for Parkinson's disease.Scientific reports · 2017Article
- Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion.Frontiers in genetics · 2017Article
- Loss of p53 in quaking viable mice leads to Purkinje cell defects and reduced survival.Scientific reports · 2011Article
- Linking oligodendrocyte and myelin dysfunction to neurocircuitry abnormalities in schizophrenia.Progress in neurobiology · 2011Review
- Essential function, sophisticated regulation and pathological impact of the selective RNA-binding protein QKI in CNS myelin development.Future neurology · 2008Article
- Identification of Drosophila mutants altering defense of and endurance to Listeria monocytogenes infection.Genetics · 2008Article
- Rescuing qkV dysmyelination by a single isoform of the selective RNA-binding protein QKI.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2006Article
- Parkinson's disease: a rethink of rodent models.Experimental brain research · 2006Review
- A new ENU-induced allele of mouse quaking causes severe CNS dysmyelination.Mammalian genome : official journal of the International Mammalian Genome Society · 2005Article
- Genetic mouse models of parkinsonism: strengths and limitations.NeuroRx : the journal of the American Society for Experimental NeuroTherapeutics · 2005Review
- Reproductive and neurological Quaking(viable) phenotypes in a severe combined immune deficient mouse background.Immunogenetics · 2005Article
- Parkin-deficient mice are not a robust model of parkinsonism.Proceedings of the National Academy of Sciences of the United States of America · 2005Article
- How does parkin ligate ubiquitin to Parkinson's disease?EMBO reports · 2004Review
- Deletion of the Parkin coregulated gene causes male sterility in the quaking(viable) mouse mutant.Proceedings of the National Academy of Sciences of the United States of America · 2004Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
The mouse mutant quaking(viable) ( qk(v)) has been studied for almost four decades as a model for dysmyelination of the central nervous system (CNS). The genetic lesion associated with the qk(v) phenotype is a large deletion of approximately 1 Megabase on mouse Chromosome (Chr) 17. This deficiency alters the expression of transcripts from the qkI locus in oligodendrocytes, resulting in improper myelination of the CNS in animals homozygous for the deletion. To determine whether other genes within the deletion contribute to the quaking(viable) phenotype, we physically mapped and sequenced the deleted interval. We determined that the mouse Parkin gene, as well as the Parkin co-regulated gene ( Pacrg), lies within the qk(v) deletion. We determined that qk(v) mutants completely lack the expression of the Parkin gene product. Loss-of-function mutations in the human PARKIN gene cause autosomal juvenile Parkinson's disease (AR-JP). Our studies show that the deletion of Parkin in qk(v) brains does not result in the loss of dopaminergic neurons typical of AR-JP patients. Also, alpha-synuclein, a target of Parkin-dependent ubiquitination, does not accumulate in qk(v) mutant brains. Despite the lack of AR-JP-like neuropathology in qk(v) mice, this mutant may constitute a readily available model for the study of the cellular function of Parkin. This is the first report of a gene distinct from qkI affected by the qk(v) deletion. The discovery of the multigenic nature of this classical mouse mutation calls for the re-evaluation of its phenotypic characterization.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.