Gyu-Hwan. Park, et.al., Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene., The Journal of neuroscience : the official journal of the Society for Neuroscience, 2010, 30

http://rdf.ncbi.nlm.nih.gov/pubmed/20826664

Gyu-Hwan. Park, et.al., Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene., The Journal of neuroscience : the official journal of the Society for Neuroscience, 2010, 30

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

トランスクリプトームデータ

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

• CD02767
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD02767

表現型アノテーション

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

• decreased skeletal muscle fiber number_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0009406I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme
• decreased body weight_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0001262I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme
• increased skeletal muscle fiber size_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0009399I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme
• muscular atrophy_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0002269I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme
• abnormal sensory neuron innervation pattern_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0000968I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme
• kyphosis_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0000160I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme
• abnormal miniature endplate potential_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0004835I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme
• abnormal synaptic transmission_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0003635I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme
• abnormal PNS synaptic transmission_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0002913I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme
• premature death_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0002083I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme
• decreased grip strength_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0010053I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme
• muscle weakness_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0000747I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme
• abnormal CNS synaptic transmission_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0002206I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme
• motor neuron degeneration_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0000938I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme
• postnatal lethality, complete penetrance_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0011085I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289Ahmb0Smn1tm1MsdOlig2tm1creTmjGrm7TgSMN289AhmbOlig2Smn1tm1Jme
• abnormal synaptic bouton morphology_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0008571I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme
• abnormal muscle morphology_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0002108I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme
• abnormal neuromuscular synapse morphology_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0001053I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme
• skeletal muscle fiber degeneration_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0009412I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme
• decreased survivor rate_Olig2<tm1(cre)Tmj>/Olig2<+>,Smn1<tm1Jme>/Smn1<tm1Msd>,Grm7<Tg(SMN2)89Ahmb>/Grm7<Tg(SMN2)89Ahmb>
  http://metadb.riken.jp/0008770I129129P2OlaHsdFVBNOlig2tm1creTmjOlig2Smn1tm1JmeSmn1tm1MsdGrm7TgSMN289AhmbGrm7TgSMN289AhmbOlig2tm1creTmjSmn1tm1MsdOlig2Grm7TgSMN289AhmbSmn1tm1Jme