ventricular septal defect_Kat6a<tm2.2Avo>/Kat6a<+>,Tbx1<tm1Bld>/Tbx1<+>

http://metadb.riken.jp/0010402I129S7SvEvBrdC57BL6Kat6atm22AvoKat6aTbx1tm1BldTbx1Kat6atm22AvoTbx1tm1BldTbx1Kat6a

ventricular septal defect_Kat6a<tm2.2Avo>/Kat6a<+>,Tbx1<tm1Bld>/Tbx1<+>

表現型アノテーション

MGI marker

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

• T-box 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:98493
• K(lysine) acetyltransferase 6A
  http://metadb.riken.jp/db/mgi_rdf/MGI:2442415

遺伝子型

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

• Kat6a<tm2.2Avo>/Kat6a<+>,Tbx1<tm1Bld>/Tbx1<+>

アレルシンボル

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

• Kat6a<tm2.2Avo>|Tbx1<tm1Bld>|Tbx1<+>|Kat6a<+>

遺伝的背景

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

• involves: 129S7/SvEvBrd * C57BL/6

MP annotation

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

• ventricular septal defect
  http://purl.obolibrary.org/obo/MP_0010402

文献

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

• Anne K. Voss, et.al., MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome., Developmental cell, 2012, 23
  http://rdf.ncbi.nlm.nih.gov/pubmed/22921202