Toshinori. Unno, et.al., Development of Purkinje cell degeneration in a knockin mouse model reveals lysosomal involvement in the pathogenesis of SCA6., Proceedings of the National Academy of Sciences of the United States of America, 2012, 109

http://rdf.ncbi.nlm.nih.gov/pubmed/23054835

Toshinori. Unno, et.al., Development of Purkinje cell degeneration in a knockin mouse model reveals lysosomal involvement in the pathogenesis of SCA6., Proceedings of the National Academy of Sciences of the United States of America, 2012, 109

pubmed

allele

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

• Cacna1a<tm2.1Kewa>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5467732
• Cacna1a<tm1.1Kewa>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5467731

class

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

• Cacna1a<tm2.1Kewa>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5467732
• Cacna1a<tm1.1Kewa>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5467731

表現型アノテーション

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

• abnormal motor coordination/ balance_Cacna1a<tm2.1Kewa>/Cacna1a<+>
  http://metadb.riken.jp/0001516B6CgCacna1atm21KewaCacna1atm21KewaCacna1aCacna1aCacna1atm21Kewa
• abnormal motor coordination/ balance_Cacna1a<tm2.1Kewa>/Cacna1a<tm2.1Kewa>
  http://metadb.riken.jp/0001516B6CgCacna1atm21KewaCacna1atm21KewaCacna1atm21KewaCacna1atm21Kewa
• abnormal nervous system electrophysiology_Cacna1a<tm2.1Kewa>/Cacna1a<tm2.1Kewa>
  http://metadb.riken.jp/0002272B6CgCacna1atm21KewaCacna1atm21KewaCacna1atm21KewaCacna1atm21Kewa
• abnormal Purkinje cell dendrite morphology_Cacna1a<tm2.1Kewa>/Cacna1a<tm2.1Kewa>
  http://metadb.riken.jp/0008572B6CgCacna1atm21KewaCacna1atm21KewaCacna1atm21KewaCacna1atm21Kewa
• short stride length_Cacna1a<tm2.1Kewa>/Cacna1a<tm2.1Kewa>
  http://metadb.riken.jp/0001407B6CgCacna1atm21KewaCacna1atm21KewaCacna1atm21KewaCacna1atm21Kewa
• Purkinje cell degeneration_Cacna1a<tm3Hzo>/Cacna1a<tm3Hzo>,Ctsb<tm1Jde>/Ctsb<tm1Jde>
  http://metadb.riken.jp/0000876I129P2OlaHsd129SSvEvCacna1atm3HzoCacna1atm3HzoCtsbtm1JdeCtsbtm1JdeCtsbtm1JdeCacna1atm3Hzo
• abnormal Purkinje cell morphology_Cacna1a<tm3Hzo>/Cacna1a<tm3Hzo>
  http://metadb.riken.jp/0000877I129SSvEvCacna1atm3HzoCacna1atm3HzoCacna1atm3Hzo
• Purkinje cell degeneration_Cacna1a<tm2.1Kewa>/Cacna1a<tm2.1Kewa>
  http://metadb.riken.jp/0000876B6CgCacna1atm21KewaCacna1atm21KewaCacna1atm21KewaCacna1atm21Kewa
• abnormal Purkinje cell morphology_Cacna1a<tm2.1Kewa>/Cacna1a<tm2.1Kewa>
  http://metadb.riken.jp/0000877B6CgCacna1atm21KewaCacna1atm21KewaCacna1atm21KewaCacna1atm21Kewa
• no abnormal phenotype detected_Cacna1a<tm1.1Kewa>/Cacna1a<tm1.1Kewa>
  http://metadb.riken.jp/0002169B6CgCacna1atm11KewaCacna1atm11KewaCacna1atm11KewaCacna1atm11Kewa
• abnormal Purkinje cell morphology_Cacna1a<tm2.1Kewa>/Cacna1a<tm2.1Kewa>,Ctsb<tm1Jde>/Ctsb<tm1Jde>
  http://metadb.riken.jp/0000877I129P2OlaHsdC57BL6Cacna1atm21KewaCacna1atm21KewaCtsbtm1JdeCtsbtm1JdeCacna1atm21KewaCtsbtm1Jde
• abnormal motor coordination/ balance_Cacna1a<tm2.1Kewa>/Cacna1a<tm2.1Kewa>,Ctsb<tm1Jde>/Ctsb<tm1Jde>
  http://metadb.riken.jp/0001516I129P2OlaHsdC57BL6Cacna1atm21KewaCacna1atm21KewaCtsbtm1JdeCtsbtm1JdeCacna1atm21KewaCtsbtm1Jde
• Purkinje cell degeneration_Cacna1a<tm2.1Kewa>/Cacna1a<+>
  http://metadb.riken.jp/0000876B6CgCacna1atm21KewaCacna1atm21KewaCacna1aCacna1aCacna1atm21Kewa
• Purkinje cell degeneration_Cacna1a<tm2.1Kewa>/Cacna1a<tm2.1Kewa>,Ctsb<tm1Jde>/Ctsb<tm1Jde>
  http://metadb.riken.jp/0000876I129P2OlaHsdC57BL6Cacna1atm21KewaCacna1atm21KewaCtsbtm1JdeCtsbtm1JdeCacna1atm21KewaCtsbtm1Jde
• abnormal gait_Cacna1a<tm2.1Kewa>/Cacna1a<tm2.1Kewa>
  http://metadb.riken.jp/0001406B6CgCacna1atm21KewaCacna1atm21KewaCacna1atm21KewaCacna1atm21Kewa
• abnormal motor coordination/ balance_Cacna1a<tm2.1Kewa>/Cacna1a<tm2.1Kewa>,Ctsb<tm1Jde>/Ctsb<+>
  http://metadb.riken.jp/0001516I129P2OlaHsdC57BL6Cacna1atm21KewaCacna1atm21KewaCtsbtm1JdeCtsbCtsbtm1JdeCtsbCacna1atm21Kewa
• ataxia_Cacna1a<tm2.1Kewa>/Cacna1a<tm2.1Kewa>
  http://metadb.riken.jp/0001393B6CgCacna1atm21KewaCacna1atm21KewaCacna1atm21KewaCacna1atm21Kewa
• ataxia_Cacna1a<tm2.1Kewa>/Cacna1a<+>
  http://metadb.riken.jp/0001393B6CgCacna1atm21KewaCacna1atm21KewaCacna1aCacna1aCacna1atm21Kewa