Peter I. Joyce, et.al., A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity., Human molecular genetics, 2015, 24

http://rdf.ncbi.nlm.nih.gov/pubmed/25468678

Peter I. Joyce, et.al., A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity., Human molecular genetics, 2015, 24

pubmed

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• decreased body weight_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0001262IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• abnormal muscle fiber morphology_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0004087IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• decreased motor neuron number_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0000939IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• increased thermal nociceptive threshold_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0001973IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• abnormal motor neuron innervation pattern_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0000940IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• microgliosis_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0008918IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• astrocytosis_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0003354IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• tremors_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0000745IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• kyphosis_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0000160IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• abnormal corticospinal tract morphology_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0002878IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• abnormal neuron physiology_Sod1<m1H>/Sod1<+>
  http://metadb.riken.jp/0004811IC3HHeHC57BL6JSod1m1HSod1Sod1m1HSod1
• decreased grip strength_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0010053IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• hypoactivity_Sod1<m1H>/Sod1<+>
  http://metadb.riken.jp/0001402IC3HHeHC57BL6JSod1m1HSod1Sod1m1HSod1
• positive geotaxis_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0005356IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• abnormal body fat mass_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0012320IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• progressive muscle weakness_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0000748IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• impaired coordination_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0001405IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• lethality, incomplete penetrance_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0010831IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• abnormal liver morphology_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0000598IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• motor neuron degeneration_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0000938IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• increased hepatocellular carcinoma incidence_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0003331IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• premature death_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0002083IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• abnormal mitochondrial physiology_Sod1<m1H>/Sod1<+>
  http://metadb.riken.jp/0006036IC3HHeHC57BL6JSod1m1HSod1Sod1m1HSod1
• liver inflammation_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0001860IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• increased liver tumor incidence_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0008019IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• hyporesponsive to tactile stimuli_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0005498IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• abnormal gait_Sod1<m1H>/Sod1<m1H>
  http://metadb.riken.jp/0001406IC3HHeHC57BL6JSod1m1HSod1m1HSod1m1H
• abnormal locomotor activation_Sod1<m1H>/Sod1<+>
  http://metadb.riken.jp/0003313IC3HHeHC57BL6JSod1m1HSod1Sod1m1HSod1