Mine Disruption Phenotype

Gene Info

  • Species:Mouse (Mus musculus)
  • GeneID:72685
  • Symbol:Dnajc6
  • Description:DnaJ heat shock protein family (Hsp40) member C6
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Gene ID Entry Entry Name Protein Name Type Information
72685 Q80TZ3 AUXI_MOUSE Putative tyrosine-protein phosphatase auxilin (EC 3.1.3.48) (DnaJ homolog subfamily C member 6) DISRUPTION PHENOTYPE Mice have a high rate of early postnatal mortality, although surviving pups have a normal life span despite decreased body weight. Knockout animals have impaired synaptic vesicle recycling, with an increased number of clathrin-coated vesicles, and impaired clathrin-mediated endocytosis of synaptic vesicles in neuronal culture. There is an up-regulation of Gak, but this does not fully compensate for the lack of the protein. The brains from mutant mice do not display alterations in substantia nigra morphology or dopamine transporter abundance or distribution, in agreement with the lack of gait or movement abnormalities in the mutant animals. {ECO:0000269|PubMed:20160091}.