abnormal retinal vasculature morphology_Ndp<tm1Lex>/Y,Tspan12<tm1Wye>/Tspan12<+>

http://metadb.riken.jp/0002792EI129S5SvEvBrdC57BL6orI129S5SvEvBrdFVBNNdptm1LexYTspan12tm1WyeTspan12Tspan12Ndptm1LexTspan12tm1Wye

abnormal retinal vasculature morphology_Ndp<tm1Lex>/Y,Tspan12<tm1Wye>/Tspan12<+>

表現型アノテーション

MGI marker

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

• tetraspanin 12
  http://metadb.riken.jp/db/mgi_rdf/MGI:1889818
• Norrie disease (pseudoglioma) (human)
  http://metadb.riken.jp/db/mgi_rdf/MGI:102570

遺伝子型

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

• Ndp<tm1Lex>/Y,Tspan12<tm1Wye>/Tspan12<+>

アレルシンボル

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

• Tspan12<+>|Ndp<tm1Lex>|Tspan12<tm1Wye>

遺伝的背景

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

• either: (involves: 129S5/SvEvBrd * C57BL/6) or (involves: 129S5/SvEvBrd * FVB/N)

MP annotation

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

• abnormal retinal vasculature morphology
  http://purl.obolibrary.org/obo/MP_0002792

文献

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

• Harald J. Junge, et.al., TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling., Cell, 2009, 139
  http://rdf.ncbi.nlm.nih.gov/pubmed/19837033