Mine Disruption Phenotype

Gene Info

  • Species:Mouse (Mus musculus)
  • GeneID:80890
  • Symbol:Trim2
  • Description:tripartite motif-containing 2
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Gene ID Entry Entry Name Protein Name Type Information
80890 Q9ESN6 TRIM2_MOUSE Tripartite motif-containing protein 2 (EC 2.3.2.27) (E3 ubiquitin-protein ligase TRIM2) (Neural activity-related RING finger protein) (RING-type E3 ubiquitin transferase TRIM2) DISRUPTION PHENOTYPE Mutant mice are indistinguishable from wild type until about 1.5 months of age, when they begin to show intention tremor, followed by gait ataxia. At this stage, neurons exhibit axonal swellings, which consist of the accumulation of disorganized neurofilaments and microtubules, mitochondria and vesicles. In later stages, mutant animals suffer from episodes of spontaneous generalized seizures, a phenotype caused by progressive loss of Purkinje cells through apoptosis. At 4 months of age, retinas in mutant mice display decreased thickness of the inner nuclear layer and a reduced number of ganglionic cells. The outer plexiform layer is also reduced, whereas the size of the photoreceptor layer is not altered (PubMed:18687884). In addition, TRIM2-knockout mice are also more susceptible to infection with new world arenaviruses (PubMed:30726215). {ECO:0000269|PubMed:18687884, ECO:0000269|PubMed:30726215}.