exencephaly_Prss8<fr>/Prss8<fr>,Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>

http://metadb.riken.jp/0000914I129P2OlaHsdDBAPrss8frPrss8frSpint2GtKST272BygSpint2GtKST272BygSpint2GtKST272BygPrss8fr

exencephaly_Prss8<fr>/Prss8<fr>,Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>

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
• protease, serine 8 (prostasin)
  http://metadb.riken.jp/db/mgi_rdf/MGI:1923810

遺伝子型

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

• Prss8<fr>/Prss8<fr>,Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>

アレルシンボル

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

• Spint2<Gt(KST272)Byg>|Prss8<fr>

遺伝的背景

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

• involves: 129P2/OlaHsd * DBA

MP annotation

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

• exencephaly
  http://purl.obolibrary.org/obo/MP_0000914

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