abnormal synaptic vesicle clustering_Ctnnb1<Bfc>/Ctnnb1<+>

http://metadb.riken.jp/0004793IBALBcCrlC3HHeNCrlCtnnb1BfcCtnnb1Ctnnb1BfcCtnnb1

abnormal synaptic vesicle clustering_Ctnnb1<Bfc>/Ctnnb1<+>

表現型アノテーション

MGI marker

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

• catenin (cadherin associated protein), beta 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:88276

遺伝子型

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

• Ctnnb1<Bfc>/Ctnnb1<+>

アレルシンボル

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

• Ctnnb1<Bfc>|Ctnnb1<+>

遺伝的背景

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

• involves: BALB/cCrl * C3H/HeNCrl

MP annotation

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

• abnormal synaptic vesicle clustering
  http://purl.obolibrary.org/obo/MP_0004793

文献

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

• Valter. Tucci, et.al., Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features., The Journal of clinical investigation, 2014, 124
  http://rdf.ncbi.nlm.nih.gov/pubmed/24614104