aortic valve stenosis_Sos1<tm1.2Rak>/Sos1<+>

http://metadb.riken.jp/0006117I129SSvC57BL6FVBNSJLSos1tm12RakSos1Sos1Sos1tm12Rak

aortic valve stenosis_Sos1<tm1.2Rak>/Sos1<+>

表現型アノテーション

MGI marker

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

• son of sevenless homolog 1 (Drosophila)
  http://metadb.riken.jp/db/mgi_rdf/MGI:98354

遺伝子型

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

• Sos1<tm1.2Rak>/Sos1<+>

アレルシンボル

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

• Sos1<+>|Sos1<tm1.2Rak>

遺伝的背景

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

• involves: 129S/Sv * C57BL/6 * FVB/N * SJL

MP annotation

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

• aortic valve stenosis
  http://purl.obolibrary.org/obo/MP_0006117

文献

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

• Peng-Chieh. Chen, et.al., Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation., The Journal of clinical investigation, 2010, 120
  http://rdf.ncbi.nlm.nih.gov/pubmed/21041952