Mine Disruption Phenotype

Gene Info

  • Species: Mouse (Mus musculus)
  • GeneID: 73205
  • Symbol: C9orf72
  • Description: C9orf72, member of C9orf72-SMCR8 complex
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Gene ID Entry Entry Name Protein Name Type Information
73205 Q6DFW0 CI072_MOUSE Guanine nucleotide exchange factor C9orf72 homolog DISRUPTION PHENOTYPE Decreased life span (PubMed:27875531, PubMed:27412785). However, another report did not observe any effect on life span (PubMed:26989253). Lymph node and spleen enlargement phenotype accompanied by macrophage infiltration (PubMed:27193190, PubMed:27875531, PubMed:26989253, PubMed:27412785). Severe inflammation also observed in liver (PubMed:27193190, PubMed:27412785). Increased total white blood cell count due to a significant increase in the number of circulating neutrophils (PubMed:27412785). Significantly reduced platelet and red blood cell count (PubMed:27412785). Increased levels of autophagy and lysosomal proteins and autophagy defects in the spleen and liver (PubMed:27193190). Impaired activation of MTOR/mTOR (PubMed:27875531). Massive up-regulation of the cell surface receptor Trem2 (PubMed:26989253). Significantly increased levels of a number of inflammatory chemokines and cytokines (PubMed:26989253, PubMed:27412785). Increased levels of autoantibodies indicative of an autoimmune phenotype (PubMed:27412785). Normal weight gain, sensorimotor coordination, limb strength, femoral motor and sensory axon counts, and muscle electrophysiology (PubMed:26989253). Conditional knockout in neurons and glial cells results in significantly reduced body weight but does not induce motor neuron degeneration, defects in motor function or altered survival (PubMed:26044557). SMCR8 protein expression is abolished in pre- and post-synaptic compartments in forebrain synapses (PubMed:31651360). RAB3A expression levels are increased in synaptosomes, however are decreased in post-synaptic compartments of the forebrain and in the hippocampus (PubMed:31651360). GRIA1/GLUR1 protein levels are increased in forebrain post-synaptic compartments and in the hippocampus (PubMed:31651360). {ECO:0000269|PubMed:26044557, ECO:0000269|PubMed:26989253, ECO:0000269|PubMed:27193190, ECO:0000269|PubMed:27412785, ECO:0000269|PubMed:27875531, ECO:0000269|PubMed:31651360}.