spina bifida_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>,St14<tm1Bug>/St14<+>

http://metadb.riken.jp/0003054I129P2OlaHsdSpint2GtKST272BygSpint2GtKST272BygSt14tm1BugSt14Spint2GtKST272BygSt14tm1BugSt14

spina bifida_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>,St14<tm1Bug>/St14<+>

表現型アノテーション

MGI marker

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

• serine protease inhibitor, Kunitz type 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1338031
• suppression of tumorigenicity 14 (colon carcinoma)
  http://metadb.riken.jp/db/mgi_rdf/MGI:1338881

遺伝子型

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

• Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>,St14<tm1Bug>/St14<+>

アレルシンボル

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

• Spint2<Gt(KST272)Byg>|St14<tm1Bug>|St14<+>

遺伝的背景

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

• involves: 129P2/OlaHsd

MP annotation

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

• spina bifida
  http://purl.obolibrary.org/obo/MP_0003054

文献

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

• Roman. Szabo, et.al., Reduced prostasin (CAP1/PRSS8) activity eliminates HAI-1 and HAI-2 deficiency-associated developmental defects by preventing matriptase activation., PLoS genetics, 2012, 8
  http://rdf.ncbi.nlm.nih.gov/pubmed/22952456