abnormal heart morphology_Del(16Dgcr2-Hira)1Rak/+,Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0

http://metadb.riken.jp/0000266I129Sv129S6SvEvTacC57BL6FVBNSJLDel16Dgcr2Hira1RakTgGNB1LTBX1GP1BBSEPT523Bem0TgGNB1LTBX1GP1BBSEPT523BemDel16Dgcr2Hira1Rak

abnormal heart morphology_Del(16Dgcr2-Hira)1Rak/+,Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0

表現型アノテーション

MGI marker

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

• deletion, Chr 16, Raju Kucherlapati 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:3702641
• transgene insertion 23, Bernice Morrow
  http://metadb.riken.jp/db/mgi_rdf/MGI:3703642

遺伝子型

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

• Del(16Dgcr2-Hira)1Rak/+,Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0

アレルシンボル

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

• Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem|+|Del(16Dgcr2-Hira)1Rak

遺伝的背景

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

• involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

MP annotation

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

• abnormal heart morphology
  http://purl.obolibrary.org/obo/MP_0000266

文献

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

• S. Merscher, et.al., TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome., Cell, 2001, 104
  http://rdf.ncbi.nlm.nih.gov/pubmed/11239417