ArticleThe European journal of neuroscience2010
Phenotypic and genetic analysis of the cerebellar mutant tmgc26, a new ENU-induced ROR-alpha allele.
Article in The European journal of neuroscience, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- Intrauterine growth restriction compromises cerebellar development by affecting radial migration of granule cells via the JamC/Pard3a molecular pathway.Experimental neurology · 2021Article
- Melatonin and Melatonergic Influence on Neuronal Transcription Factors: Implications for the Development of Novel Therapies for Neurodegenerative Disorders.Current neuropharmacology · 2020Review
- Preterm birth disrupts cerebellar development by affecting granule cell proliferation program and Bergmann glia.Experimental neurology · 2018Article
- Moving into shape: cell migration during the development and histogenesis of the cerebellum.Histochemistry and cell biology · 2018Review
- Loss of Ptf1a Leads to a Widespread Cell-Fate Misspecification in the Brainstem, Affecting the Development of Somatosensory and Viscerosensory Nuclei.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2016Article
- Characterization of Highper, an ENU-induced mouse mutant with abnormal psychostimulant and stress responses.Psychopharmacology · 2013Article
- New insights into behaviour using mouse ENU mutagenesis.Human molecular genetics · 2012Review
- Forward genetic approaches to understanding complex behaviors.Current topics in behavioral neurosciences · 2012Review
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
ROR-alpha is an orphan nuclear receptor, inactivation of which cell-autonomously blocks differentiation of cerebellar Purkinje cells with a secondary loss of granule neurons. As part of our ENU mutagenesis screen we isolated the recessive tmgc26 mouse mutant, characterized by early-onset progressive ataxia, cerebellar degeneration and juvenile lethality. Detailed analysis of the tmgc26-/- cerebella revealed Purkinje cell and granule cell abnormalities, and defects in molecular layer interneurons and radial glia. Chimera studies suggested a cell-autonomous effect of the tmgc26 mutation in Purkinje cells and molecular layer interneurons, and a non-cell-autonomous effect in granule cells. The mutation was mapped to a 13-Mb interval on chromosome 9, a region that contains the ROR-alpha gene. Sequencing of genomic DNA revealed a T-to-A transition in exon 5 of the ROR-alpha gene, resulting in a nonsense mutation C257X and severe truncation of the ROR-alpha protein. Together, our data identify new roles for ROR-alpha in molecular layer interneurons and radial glia development and suggest tmgc26 as a novel ROR-alpha allele that may be used to further delineate the molecular mechanisms of ROR-alpha action.
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