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- W4213139517 abstract "In the frame of a large scale gene trap (GT) mutation screening focused on identification of novel genes involved in CNS development and function, a mouse GT line was characterized showing postnatal reporter gene expression in cerebellar Purkinje cells (PC), hippocampus, cortex and retinal ganglionic and inner nuclear layers. Mice homozygous for the Gene Trap mutation were phenotypically indistinguishable from wild type littermates until approximately 1.5 month of age, when intention tremor followed by gait ataxia started to appear. In later stages (around 3 months) episodes of spontaneous epileptic seizures were observed.Histologically, the GT mutant mice suffered from progressive degeneration of Purkinje cells and deep cerebellar nuclei. Innervation of Purkinje cells by climbing fibers was established in the mutant mice but they retracted following degeneration of Purkinje cells. In retina size reduction was detected in ganglion cell layer and inner nuclear layer. The size of the outer plexiform layer that contains dendrites of bipolar cells was also significantly reduced. No degeneration was found in hippocampus.The GT vector insertion was found to occur inside a RBCC/TRIM RING finger domain containing gene trim2 a binding partner of myosin V. Myosin V is, as a motor molecule, responsible for transport of smooth endoplasmic reticulum into the dendritic spines of Purkinje cells. Besides it interacts with neurofilament light subunit (NF-L) and regulates neurofilament density in axons. Since no phenotype was detected in dendrites of Purkinje cells of trim2 mutant mice but Purkinje cell axonal swellings were discovered in already one month old mutants (even before degeneration of Purkinje cells was detected) both in cerebellar white matter and in granule cell layer, we suggest that axonal defect could be the cause of cerebellar phenotype of trim2 mutant mice." @default.
- W4213139517 created "2022-02-24" @default.
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- W4213139517 date "2022-02-20" @default.
- W4213139517 modified "2023-10-14" @default.
- W4213139517 title "Trim2 mutant mice as a model for cerebellar ataxia" @default.
- W4213139517 doi "https://doi.org/10.53846/goediss-1393" @default.
- W4213139517 hasPublicationYear "2022" @default.
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