abnormal atrioventricular node morphology_Nkx2-5<tm2Siz>/Nkx2-5<+>

http://metadb.riken.jp/0004114I129S4SvJaeSorNkx25tm2SizNkx25Nkx25Nkx25tm2Siz

abnormal atrioventricular node morphology_Nkx2-5<tm2Siz>/Nkx2-5<+>

表現型アノテーション

MGI marker

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

• NK2 homeobox 5
  http://metadb.riken.jp/db/mgi_rdf/MGI:97350

遺伝子型

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

• Nkx2-5<tm2Siz>/Nkx2-5<+>

アレルシンボル

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

• Nkx2-5<+>|Nkx2-5<tm2Siz>

遺伝的背景

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

• involves: 129S4/SvJaeSor

MP annotation

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

• abnormal atrioventricular node morphology
  http://purl.obolibrary.org/obo/MP_0004114

文献

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

• Patrick Y. Jay, et.al., Nkx2-5 mutation causes anatomic hypoplasia of the cardiac conduction system., The Journal of clinical investigation, 2004, 113
  http://rdf.ncbi.nlm.nih.gov/pubmed/15085192