James P. Clement, et.al., Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses., Cell, 2012, 151

http://rdf.ncbi.nlm.nih.gov/pubmed/23141534

James P. Clement, et.al., Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses., Cell, 2012, 151

pubmed

allele

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

• Syngap1<tm2Geno>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5469866
• Syngap1<tm1.1Geno>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5469865

class

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

• Syngap1<tm2Geno>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5469866
• Syngap1<tm1.1Geno>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5469865

表現型アノテーション

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

• abnormal glutamate-mediated receptor currents_Gt(ROSA)26Sor<tm9(CAG-tdTomato)Hze>/Gt(ROSA)26Sor<+>,Syngap1<tm1.1Geno>/Syngap1<+>
  http://metadb.riken.jp/0002886I129S2SvPas129S6SvEvTacC57BL6C57BL6NCrGtROSA26Sortm9CAGtdTomatoHzeGtROSA26SorSyngap1tm11GenoSyngap1GtROSA26SorGtROSA26Sortm9CAGtdTomatoHzeSyngap1tm11GenoSyngap1
• audiogenic seizures_Syngap1<tm1Rlh>/Syngap1<+>
  http://metadb.riken.jp/0001496I129S1Sv129X1SvJSyngap1tm1RlhSyngap1Syngap1Syngap1tm1Rlh
• abnormal CNS synaptic transmission_Gt(ROSA)26Sor<tm9(CAG-tdTomato)Hze>/Gt(ROSA)26Sor<+>,Syngap1<tm1.1Geno>/Syngap1<+>
  http://metadb.riken.jp/0002206I129S2SvPas129S6SvEvTacC57BL6C57BL6NCrGtROSA26Sortm9CAGtdTomatoHzeGtROSA26SorSyngap1tm11GenoSyngap1GtROSA26SorGtROSA26Sortm9CAGtdTomatoHzeSyngap1tm11GenoSyngap1
• abnormal miniature excitatory postsynaptic currents_Syngap1<tm1Rlh>/Syngap1<+>
  http://metadb.riken.jp/0004753I129S1Sv129X1SvJSyngap1tm1RlhSyngap1Syngap1Syngap1tm1Rlh
• abnormal miniature inhibitory postsynaptic currents_Syngap1<tm1Rlh>/Syngap1<+>
  http://metadb.riken.jp/0009435I129S1Sv129X1SvJSyngap1tm1RlhSyngap1Syngap1Syngap1tm1Rlh
• abnormal discrimination learning_Syngap1<tm1Rlh>/Syngap1<+>
  http://metadb.riken.jp/0002802I129S1Sv129X1SvJSyngap1tm1RlhSyngap1Syngap1Syngap1tm1Rlh
• abnormal spatial working memory_Syngap1<tm2Geno>/Syngap1<+>,Tg(CAG-cre/Esr1*)5Amc/0
  http://metadb.riken.jp/0008428I129S2SvPasC57BL6CBASyngap1tm2GenoSyngap1TgCAGcreEsr15Amc0Syngap1TgCAGcreEsr15AmcSyngap1tm2Geno
• abnormal spatial working memory_Syngap1<tm2Geno>/Syngap1<+>,Tg(CAG-cre/Esr1*)5Amc/0
  http://metadb.riken.jp/0008428I129S2SvPasC57BL6CBASyngap1tm2GenoSyngap1TgCAGcreEsr15Amc0Syngap1tm2GenoTgCAGcreEsr15AmcSyngap1
• abnormal behavior_Syngap1<tm2Geno>/Syngap1<+>,Tg(CAG-cre/Esr1*)5Amc/0
  http://metadb.riken.jp/0004924I129S2SvPasC57BL6CBASyngap1tm2GenoSyngap1TgCAGcreEsr15Amc0Syngap1tm2GenoTgCAGcreEsr15AmcSyngap1
• abnormal dendrite morphology_Syngap1<tm1Rlh>/Syngap1<+>
  http://metadb.riken.jp/0008143I129S1Sv129X1SvJSyngap1tm1RlhSyngap1Syngap1Syngap1tm1Rlh
• hyperactivity_Syngap1<tm1Rlh>/Syngap1<+>
  http://metadb.riken.jp/0001399I129S1Sv129X1SvJSyngap1tm1RlhSyngap1Syngap1Syngap1tm1Rlh
• increased susceptibility to pharmacologically induced seizures_Syngap1<tm1Rlh>/Syngap1<+>
  http://metadb.riken.jp/0002906I129S1Sv129X1SvJSyngap1tm1RlhSyngap1Syngap1Syngap1tm1Rlh
• abnormal CNS synaptic transmission_Syngap1<tm1Rlh>/Syngap1<+>
  http://metadb.riken.jp/0002206I129S1Sv129X1SvJSyngap1tm1RlhSyngap1Syngap1Syngap1tm1Rlh
• abnormal dendritic spine morphology_Syngap1<tm1Rlh>/Syngap1<+>
  http://metadb.riken.jp/0009936I129S1Sv129X1SvJSyngap1tm1RlhSyngap1Syngap1Syngap1tm1Rlh
• abnormal excitatory postsynaptic potential_Syngap1<tm1Rlh>/Syngap1<+>
  http://metadb.riken.jp/0002912I129S1Sv129X1SvJSyngap1tm1RlhSyngap1Syngap1Syngap1tm1Rlh
• hyperactivity_Syngap1<tm2Geno>/Syngap1<+>,Tg(CAG-cre/Esr1*)5Amc/0
  http://metadb.riken.jp/0001399I129S2SvPasC57BL6CBASyngap1tm2GenoSyngap1TgCAGcreEsr15Amc0Syngap1TgCAGcreEsr15AmcSyngap1tm2Geno
• hyperactivity_Syngap1<tm2Geno>/Syngap1<+>,Tg(CAG-cre/Esr1*)5Amc/0
  http://metadb.riken.jp/0001399I129S2SvPasC57BL6CBASyngap1tm2GenoSyngap1TgCAGcreEsr15Amc0Syngap1tm2GenoTgCAGcreEsr15AmcSyngap1
• abnormal glutamate-mediated receptor currents_Syngap1<tm1Rlh>/Syngap1<+>
  http://metadb.riken.jp/0002886I129S1Sv129X1SvJSyngap1tm1RlhSyngap1Syngap1Syngap1tm1Rlh
• decreased anxiety-related response_Syngap1<tm2Geno>/Syngap1<+>,Tg(CAG-cre/Esr1*)5Amc/0
  http://metadb.riken.jp/0001364I129S2SvPasC57BL6CBASyngap1tm2GenoSyngap1TgCAGcreEsr15Amc0Syngap1tm2GenoTgCAGcreEsr15AmcSyngap1
• enhanced AMPA-mediated synaptic currents_Syngap1<tm1Rlh>/Syngap1<+>
  http://metadb.riken.jp/0011002I129S1Sv129X1SvJSyngap1tm1RlhSyngap1Syngap1Syngap1tm1Rlh
• decreased anxiety-related response_Syngap1<tm2Geno>/Syngap1<+>,Tg(CAG-cre/Esr1*)5Amc/0
  http://metadb.riken.jp/0001364I129S2SvPasC57BL6CBASyngap1tm2GenoSyngap1TgCAGcreEsr15Amc0Syngap1TgCAGcreEsr15AmcSyngap1tm2Geno
• abnormal behavior_Syngap1<tm2Geno>/Syngap1<+>,Tg(CAG-cre/Esr1*)5Amc/0
  http://metadb.riken.jp/0004924I129S2SvPasC57BL6CBASyngap1tm2GenoSyngap1TgCAGcreEsr15Amc0Syngap1TgCAGcreEsr15AmcSyngap1tm2Geno