C. Zhao, et.al., Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta., Cell, 2001, 105

http://rdf.ncbi.nlm.nih.gov/pubmed/11389829

C. Zhao, et.al., Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta., Cell, 2001, 105

pubmed

allele

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

• Kif1b<tm1Noh>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2387573

表現型アノテーション

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

• impaired coordination_Kif1b<tm1Noh>/Kif1b<+>
  http://metadb.riken.jp/0001405I129S4SvJaeC57BL6JKif1btm1NohKif1bKif1bKif1btm1Noh
• respiratory failure_Kif1b<tm1Noh>/Kif1b<tm1Noh>
  http://metadb.riken.jp/0001953I129S4SvJaeC57BL6JKif1btm1NohKif1btm1NohKif1btm1Noh
• abnormal axonal transport_Kif1b<tm1Noh>/Kif1b<+>
  http://metadb.riken.jp/0004768I129S4SvJaeC57BL6JKif1btm1NohKif1bKif1bKif1btm1Noh
• abnormal spinal cord ventral horn morphology_Kif1b<tm1Noh>/Kif1b<tm1Noh>
  http://metadb.riken.jp/0005112I129S4SvJaeC57BL6JKif1btm1NohKif1btm1NohKif1btm1Noh
• abnormal synaptic vesicle number_Kif1b<tm1Noh>/Kif1b<tm1Noh>
  http://metadb.riken.jp/0004792I129S4SvJaeC57BL6JKif1btm1NohKif1btm1NohKif1btm1Noh
• decreased neuron number_Kif1b<tm1Noh>/Kif1b<tm1Noh>
  http://metadb.riken.jp/0008948I129S4SvJaeC57BL6JKif1btm1NohKif1btm1NohKif1btm1Noh
• lordosis_Kif1b<tm1Noh>/Kif1b<tm1Noh>
  http://metadb.riken.jp/0000162I129S4SvJaeC57BL6JKif1btm1NohKif1btm1NohKif1btm1Noh
• abnormal hippocampus morphology_Kif1b<tm1Noh>/Kif1b<tm1Noh>
  http://metadb.riken.jp/0000807I129S4SvJaeC57BL6JKif1btm1NohKif1btm1NohKif1btm1Noh
• progressive muscle weakness_Kif1b<tm1Noh>/Kif1b<+>
  http://metadb.riken.jp/0000748I129S4SvJaeC57BL6JKif1btm1NohKif1bKif1bKif1btm1Noh
• abnormal brain commissure morphology_Kif1b<tm1Noh>/Kif1b<tm1Noh>
  http://metadb.riken.jp/0002199I129S4SvJaeC57BL6JKif1btm1NohKif1btm1NohKif1btm1Noh
• decreased brain size_Kif1b<tm1Noh>/Kif1b<tm1Noh>
  http://metadb.riken.jp/0000774I129S4SvJaeC57BL6JKif1btm1NohKif1btm1NohKif1btm1Noh
• neonatal lethality, complete penetrance_Kif1b<tm1Noh>/Kif1b<tm1Noh>
  http://metadb.riken.jp/0011087I129S4SvJaeC57BL6JKif1btm1NohKif1btm1NohKif1btm1Noh
• abnormal brainstem morphology_Kif1b<tm1Noh>/Kif1b<tm1Noh>
  http://metadb.riken.jp/0005277I129S4SvJaeC57BL6JKif1btm1NohKif1btm1NohKif1btm1Noh
• abnormal motor coordination/ balance_Kif1b<tm1Noh>/Kif1b<+>
  http://metadb.riken.jp/0001516I129S4SvJaeC57BL6JKif1btm1NohKif1bKif1bKif1btm1Noh
• unresponsive to tactile stimuli_Kif1b<tm1Noh>/Kif1b<tm1Noh>
  http://metadb.riken.jp/0001491I129S4SvJaeC57BL6JKif1btm1NohKif1btm1NohKif1btm1Noh

class

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

• Kif1b<tm1Noh>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2387573

トランスクリプトームデータ

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

• CD03212
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD03212
• CD02107
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD02107