Mine Disruption Phenotype

Gene Info

  • Species:Mouse (Mus musculus)
  • GeneID:68943
  • Symbol:Pink1
  • Description:PTEN induced putative kinase 1
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Gene ID Entry Entry Name Protein Name Type Information
68943 Q99MQ3 PINK1_MOUSE Serine/threonine-protein kinase PINK1, mitochondrial (EC 2.7.11.1) (BRPK) (PTEN-induced putative kinase protein 1) DISRUPTION PHENOTYPE Mitochondrial dysfunction (PubMed:18687901, PubMed:20049710, PubMed:32484300). Mice do not show gross structural defects in mitochondria, although the number of larger mitochondria is selectively increased (PubMed:18687901, PubMed:32484300). Mitochondrial respiration is impaired in the striatum, which is rich in dopaminergic terminals, but not in the cerebral cortex in young mice (PubMed:18687901). Mitochondrial respiration activities in the cerebral cortex are decreased in 2 years old mice (PubMed:18687901). Mice show defects in mitochondrial complex I and a decrease in mitochondrial membrane potential (PubMed:20049710). Decreased phosphorylation of Dnm1l in embryonic fibroblasts and in the substantial nigra of 18 month old mice (PubMed:32484300). {ECO:0000269|PubMed:18687901, ECO:0000269|PubMed:20049710, ECO:0000269|PubMed:32484300}.