ArticleMammalian genome : official journal of the International Mammalian Genome Society2005
A new ENU-induced allele of mouse quaking causes severe CNS dysmyelination.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed.
- Genomic screening of fish-specific genes in gnathostomes and their functions in fin development.Development, growth & differentiation · 2024Article
- Spontaneous mutation in 2310061I04Rik results in reduced expression of mitochondrial genes and impaired brain myelination.PloS one · 2024Article
- The multifaceted role of quaking protein in neuropsychiatric disorders and tumor progression.Frontiers in neuroscience · 2024Review
- Identification of Qk as a Glial Precursor Cell Marker that Governs the Fate Specification of Neural Stem Cells to a Glial Cell Lineage.Stem cell reports · 2020Article
- The expression of long noncoding RNA NEAT1 is reduced in schizophrenia and modulates oligodendrocytes transcription.NPJ schizophrenia · 2019Article
- MicroRNA-214 modulates neural progenitor cell differentiation by targeting Quaking during cerebral cortex development.Scientific reports · 2017Article
- Article
- Structural analysis of the quaking homodimerization interface.Journal of molecular biology · 2012Article
- Quaking regulates Hnrnpa1 expression through its 3' UTR in oligodendrocyte precursor cells.PLoS genetics · 2011Article
- High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5.BMC genetics · 2010Article
- Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.PLoS genetics · 2009Article
- Expressed sequence tag analysis of adult human optic nerve for NEIBank: identification of cell type and tissue markers.BMC neuroscience · 2009Article
- Mouse forward genetics in the study of the peripheral nervous system and human peripheral neuropathy.Neurochemical research · 2009Review
- Essential function, sophisticated regulation and pathological impact of the selective RNA-binding protein QKI in CNS myelin development.Future neurology · 2008Article
- Variation in Galr1 expression determines susceptibility to exocitotoxin-induced cell death in mice.Genes, brain, and behavior · 2008Article
- Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2007Review
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5 authors.
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Abstract
The mutant allelic series of the mouse quaking gene consists of the spontaneous quaking(viable) (qk(v)) allele, which is homozygous viable with a dysmyelination phenotype, and four ENU-induced alleles (qk(kt 1), qk(k2), qk(kt3/4), and qk(l-1)), which are homozygous embryonic lethal. Here we report the isolation of qk(e5), the first ENU-induced viable allele of quaking. Unlike qk(v)/qk(v), qk(e5)/qk(e5) animals have early-onset seizures, severe ataxia, and a dramatically reduced lifespan. Ultrastructural analysis of qk(e5)/qk(e5) brains reveals severe dysmyelination when compared with both wild-type and qk(v)/qk(v) brains. In addition, Calbindin detection in young adult qk(e5)/qk(e5) mice reveals Purkinje cell axonal swellings indicative of neurodegeneration , which is not seen in young adult qk(v)/qk(v) mice. Although the molecular defect in the qk(e5) allele is not evident by sequencing, protein expression studies show that qk(e5)/qk(e5) postnatal oligodendrocytes lack the QKI-6 and QKI-7 isoforms and have reduced QKI-5 levels. The oligodendrocyte developmental markers PDGF alpha R, NG 2, O4, CNP, and MBP are also present in the qk(e5)/qk(e5) postnatal brain although CNP and MBP levels are considerably reduced. Because the qk(v) allele is a large deletion that affects the expression of three genes, the new neurologic qk(e5) allele is an important addition to this allelic series.
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