atrioventricular septal defect_Kat6a<tm1Avo>/Kat6a<tm1Avo>

http://metadb.riken.jp/0010412I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo

atrioventricular septal defect_Kat6a<tm1Avo>/Kat6a<tm1Avo>

表現型アノテーション

MGI marker

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

• 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<tm1Avo>/Kat6a<tm1Avo>

アレルシンボル

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

• Kat6a<tm1Avo>

遺伝的背景

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

• involves: 129/Sv * BALB/c * FVB/N

MP annotation

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

• atrioventricular septal defect
  http://purl.obolibrary.org/obo/MP_0010412

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