perinatal lethality, incomplete penetrance_Del(16App-Runx1)5Yah/+

http://metadb.riken.jp/0011090I129S1Sv129X1SvJBALBcC57BL6Del16AppRunx15YahDel16AppRunx15Yah

perinatal lethality, incomplete penetrance_Del(16App-Runx1)5Yah/+

表現型アノテーション

MGI marker

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

• deletion, Chr 16, Yann Herault 5
  http://metadb.riken.jp/db/mgi_rdf/MGI:5431226

遺伝子型

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

• Del(16App-Runx1)5Yah/+

アレルシンボル

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

• Del(16App-Runx1)5Yah|+

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6

MP annotation

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

• partial perinatal lethality
  http://purl.obolibrary.org/obo/MP_0011090

文献

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

• Matthieu. Raveau, et.al., The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model., PLoS genetics, 2012, 8
  http://rdf.ncbi.nlm.nih.gov/pubmed/22693452