Mine Disruption Phenotype

Gene Info

  • Species: Mouse (Mus musculus)
  • GeneID: 22223
  • Symbol: Uchl1
  • Description: ubiquitin carboxy-terminal hydrolase L1
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Gene ID Entry Entry Name Protein Name Type Information
22223 Q9R0P9 UCHL1_MOUSE Ubiquitin carboxyl-terminal hydrolase isozyme L1 (UCH-L1) (EC 3.4.19.12) (Neuron cytoplasmic protein 9.5) (PGP 9.5) (PGP9.5) (Ubiquitin thioesterase L1) DISRUPTION PHENOTYPE Mice show sensory ataxia at an early stage, followed by motor ataxia at a later stage. They have reduced levels of monoubiquitin in the nervous system, and increased resistance to retinal ischemia. {ECO:0000269|PubMed:10471497, ECO:0000269|PubMed:12913066}.