Dan. Xia, et.al., Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease., Neuron, 2015, 85

http://rdf.ncbi.nlm.nih.gov/pubmed/25741723

Dan. Xia, et.al., Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease., Neuron, 2015, 85

pubmed

allele

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

• Psen1<tm5.1Shn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5751734
• Psen1<tm4.1Shn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5751732

表現型アノテーション

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

• kinked tail_Psen1<tm4.1Shn>/Psen1<tm4.1Shn>
  http://metadb.riken.jp/0000585I129C57BL6C57BL6JPsen1tm41ShnPsen1tm41ShnPsen1tm41Shn
• perinatal lethality, complete penetrance_Psen1<tm5.1Shn>/Psen1<tm5.1Shn>
  http://metadb.riken.jp/0011089I129C57BL6C57BL6JPsen1tm51ShnPsen1tm51ShnPsen1tm51Shn
• short rostral-caudal axis_Psen1<tm4.1Shn>/Psen1<tm4.1Shn>
  http://metadb.riken.jp/0012173I129C57BL6C57BL6JPsen1tm41ShnPsen1tm41ShnPsen1tm41Shn
• impaired synaptic plasticity_Psen1<tm4.1Shn>/Psen1<+>,Psen2<tm1Haa>/Psen2<tm1Haa>
  http://metadb.riken.jp/0001900I129C57BL6C57BL6JPsen1tm41ShnPsen1Psen2tm1HaaPsen2tm1HaaPsen2tm1HaaPsen1Psen1tm41Shn
• decreased paired-pulse facilitation_Psen1<tm4.1Shn>/Psen1<+>,Psen2<tm1Haa>/Psen2<tm1Haa>
  http://metadb.riken.jp/0002920I129C57BL6C57BL6JPsen1tm41ShnPsen1Psen2tm1HaaPsen2tm1HaaPsen2tm1HaaPsen1Psen1tm41Shn
• abnormal spatial reference memory_Psen1<tm4.1Shn>/Psen1<+>,Psen2<tm1Haa>/Psen2<tm1Haa>
  http://metadb.riken.jp/0008414I129C57BL6C57BL6JPsen1tm41ShnPsen1Psen2tm1HaaPsen2tm1HaaPsen2tm1HaaPsen1Psen1tm41Shn
• abnormal cortical ventricular zone morphology_Psen1<tm5.1Shn>/Psen1<tm5.1Shn>
  http://metadb.riken.jp/0008458I129C57BL6C57BL6JPsen1tm51ShnPsen1tm51ShnPsen1tm51Shn
• perinatal lethality, complete penetrance_Psen1<tm4.1Shn>/Psen1<tm4.1Shn>
  http://metadb.riken.jp/0011089I129C57BL6C57BL6JPsen1tm41ShnPsen1tm41ShnPsen1tm41Shn
• abnormal lateral ganglionic eminence morphology_Psen1<tm5.1Shn>/Psen1<tm5.1Shn>
  http://metadb.riken.jp/0004277I129C57BL6C57BL6JPsen1tm51ShnPsen1tm51ShnPsen1tm51Shn
• reduced long term potentiation_Psen1<tm4.1Shn>/Psen1<+>,Psen2<tm1Haa>/Psen2<tm1Haa>
  http://metadb.riken.jp/0001473I129C57BL6C57BL6JPsen1tm41ShnPsen1Psen2tm1HaaPsen2tm1HaaPsen2tm1HaaPsen1Psen1tm41Shn
• increased synaptic depression_Psen1<tm4.1Shn>/Psen1<+>,Psen2<tm1Haa>/Psen2<tm1Haa>
  http://metadb.riken.jp/0002916I129C57BL6C57BL6JPsen1tm41ShnPsen1Psen2tm1HaaPsen2tm1HaaPsen2tm1HaaPsen1Psen1tm41Shn
• astrocytosis_Psen1<tm2Shn>/Psen1<tm4.1Shn>,Psen2<tm1Haa>/Psen2<tm1Haa>,Tg(Camk2a-cre)1Shn/0
  http://metadb.riken.jp/0003354I129129S4SvJaeC57BL6C57BL6JCBAPsen1tm2ShnPsen1tm41ShnPsen2tm1HaaPsen2tm1HaaTgCamk2acre1Shn0Psen1tm41ShnPsen1tm2ShnPsen2tm1HaaTgCamk2acre1Shn
• microgliosis_Psen1<tm2Shn>/Psen1<tm4.1Shn>,Psen2<tm1Haa>/Psen2<tm1Haa>,Tg(Camk2a-cre)1Shn/0
  http://metadb.riken.jp/0008918I129129S4SvJaeC57BL6C57BL6JCBAPsen1tm2ShnPsen1tm41ShnPsen2tm1HaaPsen2tm1HaaTgCamk2acre1Shn0Psen1tm41ShnPsen1tm2ShnPsen2tm1HaaTgCamk2acre1Shn
• abnormal cerebral cortex morphology_Psen1<tm2Shn>/Psen1<tm4.1Shn>,Psen2<tm1Haa>/Psen2<tm1Haa>,Tg(Camk2a-cre)1Shn/0
  http://metadb.riken.jp/0000788I129129S4SvJaeC57BL6C57BL6JCBAPsen1tm2ShnPsen1tm41ShnPsen2tm1HaaPsen2tm1HaaTgCamk2acre1Shn0Psen1tm41ShnPsen1tm2ShnPsen2tm1HaaTgCamk2acre1Shn
• amyloid beta deposits_Psen1<tm4.1Shn>/Psen1<+>,Tg(PDGFB-APPSwInd)20Lms/0
  http://metadb.riken.jp/0003329I129C57BL6C57BL6JDBA2Psen1tm41ShnPsen1TgPDGFBAPPSwInd20Lms0Psen1Psen1tm41ShnTgPDGFBAPPSwInd20Lms
• abnormal neocortex morphology_Psen1<tm2Shn>/Psen1<tm4.1Shn>,Psen2<tm1Haa>/Psen2<tm1Haa>,Tg(Camk2a-cre)1Shn/0
  http://metadb.riken.jp/0008547I129129S4SvJaeC57BL6C57BL6JCBAPsen1tm2ShnPsen1tm41ShnPsen2tm1HaaPsen2tm1HaaTgCamk2acre1Shn0Psen1tm41ShnPsen1tm2ShnPsen2tm1HaaTgCamk2acre1Shn
• short tail_Psen1<tm5.1Shn>/Psen1<tm5.1Shn>
  http://metadb.riken.jp/0000592I129C57BL6C57BL6JPsen1tm51ShnPsen1tm51ShnPsen1tm51Shn
• kinked tail_Psen1<tm5.1Shn>/Psen1<tm5.1Shn>
  http://metadb.riken.jp/0000585I129C57BL6C57BL6JPsen1tm51ShnPsen1tm51ShnPsen1tm51Shn
• short tail_Psen1<tm4.1Shn>/Psen1<tm4.1Shn>
  http://metadb.riken.jp/0000592I129C57BL6C57BL6JPsen1tm41ShnPsen1tm41ShnPsen1tm41Shn
• neurodegeneration_Psen1<tm2Shn>/Psen1<tm4.1Shn>,Psen2<tm1Haa>/Psen2<tm1Haa>,Tg(Camk2a-cre)1Shn/0
  http://metadb.riken.jp/0002229I129129S4SvJaeC57BL6C57BL6JCBAPsen1tm2ShnPsen1tm41ShnPsen2tm1HaaPsen2tm1HaaTgCamk2acre1Shn0Psen1tm41ShnPsen1tm2ShnPsen2tm1HaaTgCamk2acre1Shn
• abnormal cortical ventricular zone morphology_Psen1<tm4.1Shn>/Psen1<tm4.1Shn>
  http://metadb.riken.jp/0008458I129C57BL6C57BL6JPsen1tm41ShnPsen1tm41ShnPsen1tm41Shn
• decreased neuron number_Psen1<tm2Shn>/Psen1<tm4.1Shn>,Psen2<tm1Haa>/Psen2<tm1Haa>,Tg(Camk2a-cre)1Shn/0
  http://metadb.riken.jp/0008948I129129S4SvJaeC57BL6C57BL6JCBAPsen1tm2ShnPsen1tm41ShnPsen2tm1HaaPsen2tm1HaaTgCamk2acre1Shn0Psen1tm41ShnPsen1tm2ShnPsen2tm1HaaTgCamk2acre1Shn
• short rostral-caudal axis_Psen1<tm5.1Shn>/Psen1<tm5.1Shn>
  http://metadb.riken.jp/0012173I129C57BL6C57BL6JPsen1tm51ShnPsen1tm51ShnPsen1tm51Shn
• abnormal lateral ganglionic eminence morphology_Psen1<tm4.1Shn>/Psen1<tm4.1Shn>
  http://metadb.riken.jp/0004277I129C57BL6C57BL6JPsen1tm41ShnPsen1tm41ShnPsen1tm41Shn

class

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

• Psen1<tm5.1Shn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5751734
• Psen1<tm4.1Shn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5751732