holoprosencephaly_Nodal<tm1Rob>/Nodal<+>,Smad2<tm1.1Epb>/Smad2<+>

http://metadb.riken.jp/0005157I129SSvEv129X1SvJC57BL6JSJLNodaltm1RobNodalSmad2tm11EpbSmad2Smad2tm11EpbNodalNodaltm1RobSmad2

holoprosencephaly_Nodal<tm1Rob>/Nodal<+>,Smad2<tm1.1Epb>/Smad2<+>

表現型アノテーション

MGI marker

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

• SMAD family member 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:108051
• nodal
  http://metadb.riken.jp/db/mgi_rdf/MGI:97359

遺伝子型

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

• Nodal<tm1Rob>/Nodal<+>,Smad2<tm1.1Epb>/Smad2<+>

アレルシンボル

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

• Smad2<tm1.1Epb>|Nodal<+>|Nodal<tm1Rob>|Smad2<+>

遺伝的背景

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

• involves: 129S/SvEv * 129X1/SvJ * C57BL/6J * SJL

MP annotation

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

• holoprosencephaly
  http://purl.obolibrary.org/obo/MP_0005157

文献

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

• Kenichiro. Taniguchi, et.al., Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway., PLoS genetics, 2012, 8
  http://rdf.ncbi.nlm.nih.gov/pubmed/22383895