spina bifida_Prss8<fr>/Prss8<+>,Spint1<tm1Bug>/Spint1<tm1Bug>

http://metadb.riken.jp/0003054I129S6SvEvTacDBAPrss8frPrss8Spint1tm1BugSpint1tm1BugPrss8Prss8frSpint1tm1Bug

spina bifida_Prss8<fr>/Prss8<+>,Spint1<tm1Bug>/Spint1<tm1Bug>

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 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1338033
• 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<+>,Spint1<tm1Bug>/Spint1<tm1Bug>

アレルシンボル

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

• Prss8<+>|Prss8<fr>|Spint1<tm1Bug>

遺伝的背景

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

• involves: 129S6/SvEvTac * DBA

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