embryonic lethality, complete penetrance_Scnn1a<tm1.2Hum>/Scnn1a<tm1.2Hum>,Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>

http://metadb.riken.jp/0011092I129Sv129P2OlaHsdScnn1atm12HumScnn1atm12HumSpint2GtKST272BygSpint2GtKST272BygScnn1atm12HumSpint2GtKST272Byg

embryonic lethality, complete penetrance_Scnn1a<tm1.2Hum>/Scnn1a<tm1.2Hum>,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
• sodium channel, nonvoltage-gated 1 alpha
  http://metadb.riken.jp/db/mgi_rdf/MGI:101782

遺伝子型

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

• Scnn1a<tm1.2Hum>/Scnn1a<tm1.2Hum>,Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>

アレルシンボル

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

• Scnn1a<tm1.2Hum>|Spint2<Gt(KST272)Byg>

遺伝的背景

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

• involves: 129/Sv * 129P2/OlaHsd

MP annotation

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

• complete embryonic lethality
  http://purl.obolibrary.org/obo/MP_0011092

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