atrioventricular septal defect_Smg9<em1J>/Smg9<em1J>

http://metadb.riken.jp/0010412IC57BL6NJSmg9em1JSmg9em1JSmg9em1J

atrioventricular septal defect_Smg9<em1J>/Smg9<em1J>

表現型アノテーション

MGI marker

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

• smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)
  http://metadb.riken.jp/db/mgi_rdf/MGI:1919247

遺伝子型

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

• Smg9<em1J>/Smg9<em1J>

アレルシンボル

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

• Smg9<em1J>

遺伝的背景

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

• involves: C57BL/6NJ

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

• Ranad. Shaheen, et.al., Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice., American journal of human genetics, 2016, 98
  http://rdf.ncbi.nlm.nih.gov/pubmed/27018474