abnormal CNS synaptic transmission_Syngap1<tm1Rlh>/Syngap1<+>

http://metadb.riken.jp/0002206I129S1Sv129X1SvJSyngap1tm1RlhSyngap1Syngap1Syngap1tm1Rlh

abnormal CNS synaptic transmission_Syngap1<tm1Rlh>/Syngap1<+>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• synaptic Ras GTPase activating protein 1 homolog (rat)
  http://metadb.riken.jp/db/mgi_rdf/MGI:3039785

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Syngap1<tm1Rlh>/Syngap1<+>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Syngap1<+>|Syngap1<tm1Rlh>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• involves: 129S1/Sv * 129X1/SvJ

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• abnormal CNS synaptic transmission
  http://purl.obolibrary.org/obo/MP_0002206

文献

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

• 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