abnormal brain vasculature morphology_Aggf1<Gt(PT036)Byg>/Aggf1<+>

http://metadb.riken.jp/0004950I129P2OlaHsdC57BL6Aggf1GtPT036BygAggf1Aggf1GtPT036BygAggf1

abnormal brain vasculature morphology_Aggf1<Gt(PT036)Byg>/Aggf1<+>

表現型アノテーション

MGI marker

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

• angiogenic factor with G patch and FHA domains 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1913799

遺伝子型

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

• Aggf1<Gt(PT036)Byg>/Aggf1<+>

アレルシンボル

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

• Aggf1<Gt(PT036)Byg>|Aggf1<+>

遺伝的背景

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

• involves: 129P2/OlaHsd * C57BL/6

MP annotation

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

• abnormal brain vasculature morphology
  http://purl.obolibrary.org/obo/MP_0004950

文献

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

• Teng. Zhang, et.al., Haploinsufficiency of Klippel-Trenaunay syndrome gene Aggf1 inhibits developmental and pathological angiogenesis by inactivating PI3K and AKT and disrupts vascular integrity by activating VE-cadherin., Human molecular genetics, 2016, 25
  http://rdf.ncbi.nlm.nih.gov/pubmed/27522498