Rebecca M. Boumil, et.al., A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice., PLoS genetics, 2010, 6

http://rdf.ncbi.nlm.nih.gov/pubmed/20700442

Rebecca M. Boumil, et.al., A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice., PLoS genetics, 2010, 6

pubmed

allele

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

• Dnm1<Ftfl>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3033341

表現型アノテーション

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

• convulsive seizures_Dnm1<Ftfl>/Dnm1<Ftfl>
  http://metadb.riken.jp/0000947C57BL6JDnm1FtflDnm1FtflDnm1FtflDnm1Ftfl
• abnormal seizure response to electrical stimulation_Dnm1<Ftfl>/Dnm1<+>
  http://metadb.riken.jp/0001650C57BL6JDnm1FtflDnm1FtflDnm1Dnm1FtflDnm1
• abnormal Purkinje cell dendrite morphology_Dnm1<Ftfl>/Dnm1<Ftfl>,Tg(Pvalb-EGFP)B20Zjh/0
  http://metadb.riken.jp/0008572IC57BL6C57BL6JFVBDnm1FtflDnm1FtflTgPvalbEGFPB20Zjh0TgPvalbEGFPB20ZjhDnm1Ftfl
• ataxia_Dnm1<Ftfl>/Dnm1<Ftfl>
  http://metadb.riken.jp/0001393C57BL6JDnm1FtflDnm1FtflDnm1FtflDnm1Ftfl
• hunched posture_Dnm1<Ftfl>/Dnm1<tm1Pdc>
  http://metadb.riken.jp/0001505IC57BL6JDnm1FtflDnm1tm1PdcDnm1tm1PdcDnm1Ftfl
• tonic-clonic seizures_Dnm1<Ftfl>/Dnm1<Ftfl>
  http://metadb.riken.jp/0003997C57BL6JDnm1FtflDnm1FtflDnm1FtflDnm1Ftfl
• abnormal auditory brainstem response waveform shape_Dnm1<Ftfl>/Dnm1<Ftfl>
  http://metadb.riken.jp/0011966C57BL6JDnm1FtflDnm1FtflDnm1FtflDnm1Ftfl
• impaired limb coordination_Dnm1<Ftfl>/Dnm1<Ftfl>
  http://metadb.riken.jp/0001524C57BL6JDnm1FtflDnm1FtflDnm1FtflDnm1Ftfl
• abnormal Purkinje cell dendrite morphology_Dnm1<Ftfl>/Dnm1<Ftfl>
  http://metadb.riken.jp/0008572C57BL6JDnm1FtflDnm1FtflDnm1FtflDnm1Ftfl
• postnatal lethality, complete penetrance_Dnm1<Ftfl>/Dnm1<Ftfl>
  http://metadb.riken.jp/0011085C57BL6JDnm1FtflDnm1FtflDnm1FtflDnm1Ftfl
• abnormal gait_Dnm1<Ftfl>/Dnm1<Ftfl>
  http://metadb.riken.jp/0001406C57BL6JDnm1FtflDnm1FtflDnm1FtflDnm1Ftfl
• increased or absent threshold for auditory brainstem response_Dnm1<Ftfl>/Dnm1<Ftfl>
  http://metadb.riken.jp/0011967C57BL6JDnm1FtflDnm1FtflDnm1FtflDnm1Ftfl
• tonic seizures_Dnm1<Ftfl>/Dnm1<+>
  http://metadb.riken.jp/0002826C57BL6JDnm1FtflDnm1FtflDnm1Dnm1FtflDnm1
• abnormal motor capabilities/coordination/movement_Dnm1<Ftfl>/Dnm1<tm1Pdc>
  http://metadb.riken.jp/0002066IC57BL6JDnm1FtflDnm1tm1PdcDnm1tm1PdcDnm1Ftfl
• abnormal kindling response_Dnm1<Ftfl>/Dnm1<+>
  http://metadb.riken.jp/0001499C57BL6JDnm1FtflDnm1FtflDnm1Dnm1FtflDnm1
• tremors_Dnm1<Ftfl>/Dnm1<tm1Pdc>
  http://metadb.riken.jp/0000745IC57BL6JDnm1FtflDnm1tm1PdcDnm1tm1PdcDnm1Ftfl

class

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

• Dnm1<Ftfl>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3033341

トランスクリプトームデータ

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

• CD03223
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD03223