arteriovenous malformation_Notch1<tm1Grid>/Notch1<+>,Notch3<tm1Grid>/Notch3<tm1Grid>

http://metadb.riken.jp/0006093I129S1SvC57BL6Notch1tm1GridNotch1Notch3tm1GridNotch3tm1GridNotch1tm1GridNotch3tm1GridNotch1

arteriovenous malformation_Notch1<tm1Grid>/Notch1<+>,Notch3<tm1Grid>/Notch3<tm1Grid>

表現型アノテーション

MGI marker

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

• notch 3
  http://metadb.riken.jp/db/mgi_rdf/MGI:99460
• notch 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:97363

遺伝子型

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

• Notch1<tm1Grid>/Notch1<+>,Notch3<tm1Grid>/Notch3<tm1Grid>

アレルシンボル

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

• Notch1<tm1Grid>|Notch3<tm1Grid>|Notch1<+>

遺伝的背景

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

• involves: 129S1/Sv * C57BL/6

MP annotation

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

• arteriovenous malformation
  http://purl.obolibrary.org/obo/MP_0006093

文献

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

• Natalie M. Kofler, et.al., Combined deficiency of Notch1 and Notch3 causes pericyte dysfunction, models CADASIL, and results in arteriovenous malformations., Scientific reports, 2015, 5
  http://rdf.ncbi.nlm.nih.gov/pubmed/26563570