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

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

pubmed

表現型アノテーション

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

• abnormal placenta labyrinth morphology_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>,St14<tm1Bug>/St14<+>
  http://metadb.riken.jp/0001716I129P2OlaHsdSpint2GtKST272BygSpint2GtKST272BygSt14tm1BugSt14Spint2GtKST272BygSt14tm1BugSt14
• impaired skin barrier function_Prss8<Gt(IST10122F12)Tigm>/Prss8<Gt(IST10122F12)Tigm>
  http://metadb.riken.jp/0002796I129S6SvEvTacBlackSwissC57BL6JC57BL6NPrss8GtIST10122F12TigmPrss8GtIST10122F12TigmPrss8GtIST10122F12Tigm
• spina bifida_Prss8<fr>/Prss8<+>,Spint1<tm1Bug>/Spint1<tm1Bug>
  http://metadb.riken.jp/0003054I129S6SvEvTacDBAPrss8frPrss8Spint1tm1BugSpint1tm1BugPrss8Prss8frSpint1tm1Bug
• embryonic lethality between implantation and placentation, incomplete penetrance_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>,St14<tm1Bug>/St14<+>
  http://metadb.riken.jp/0011105I129P2OlaHsdSpint2GtKST272BygSpint2GtKST272BygSt14tm1BugSt14Spint2GtKST272BygSt14tm1BugSt14
• embryonic lethality during organogenesis, incomplete penetrance_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>,St14<tm1Bug>/St14<+>
  http://metadb.riken.jp/0011108I129P2OlaHsdSpint2GtKST272BygSpint2GtKST272BygSt14tm1BugSt14Spint2GtKST272BygSt14tm1BugSt14
• abnormal neural tube closure_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>
  http://metadb.riken.jp/0003720I129P2OlaHsdSpint2GtKST272BygSpint2GtKST272BygSpint2GtKST272Byg
• dehydration_Prss8<Gt(IST10122F12)Tigm>/Prss8<Gt(IST10122F12)Tigm>
  http://metadb.riken.jp/0001429I129S6SvEvTacBlackSwissC57BL6JC57BL6NPrss8GtIST10122F12TigmPrss8GtIST10122F12TigmPrss8GtIST10122F12Tigm
• curly tail_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>,St14<tm1Bug>/St14<+>
  http://metadb.riken.jp/0003051I129P2OlaHsdSpint2GtKST272BygSpint2GtKST272BygSt14tm1BugSt14Spint2GtKST272BygSt14tm1BugSt14
• absent placental labyrinth_Spint1<tm1Bug>/Spint1<tm1Bug>,St14<tm1Bug>/St14<+>
  http://metadb.riken.jp/0003403I129P2OlaHsd129S6SvEvTacSpint1tm1BugSpint1tm1BugSt14tm1BugSt14St14Spint1tm1BugSt14tm1Bug
• absent placental labyrinth_Spint1<tm1Bug>/Spint1<tm1Bug>
  http://metadb.riken.jp/0003403I129S6SvEvTacSpint1tm1BugSpint1tm1BugSpint1tm1Bug
• exencephaly_Prss8<fr>/Prss8<fr>,Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>
  http://metadb.riken.jp/0000914I129P2OlaHsdDBAPrss8frPrss8frSpint2GtKST272BygSpint2GtKST272BygSpint2GtKST272BygPrss8fr
• prenatal lethality, incomplete penetrance_Prss8<fr>/Prss8<fr>,Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>
  http://metadb.riken.jp/0011101I129P2OlaHsdDBAPrss8frPrss8frSpint2GtKST272BygSpint2GtKST272BygSpint2GtKST272BygPrss8fr
• lethality throughout fetal growth and development, complete penetrance_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>,St14<tm1Bug>/St14<+>
  http://metadb.riken.jp/0011099I129P2OlaHsdSpint2GtKST272BygSpint2GtKST272BygSt14tm1BugSt14Spint2GtKST272BygSt14tm1BugSt14
• curly tail_F2r<tm1Ajc>/F2r<tm1Ajc>
  http://metadb.riken.jp/0003051I129S4SvJaeF2rtm1AjcF2rtm1AjcF2rtm1Ajc
• curly tail_F2r<tm1Ajc>/F2r<tm1Ajc>,F2rl1<tm1Cgh>/F2rl1<tm1Cgh>
  http://metadb.riken.jp/0003051I129S4SvJaeF2rtm1AjcF2rtm1AjcF2rl1tm1CghF2rl1tm1CghF2rl1tm1CghF2rtm1Ajc
• spina bifida_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>,St14<tm1Bug>/St14<+>
  http://metadb.riken.jp/0003054I129P2OlaHsdSpint2GtKST272BygSpint2GtKST272BygSt14tm1BugSt14Spint2GtKST272BygSt14tm1BugSt14
• embryonic lethality during organogenesis, complete penetrance_Prss8<fr>/Prss8<+>,Spint1<tm1Bug>/Spint1<tm1Bug>
  http://metadb.riken.jp/0011098I129S6SvEvTacDBAPrss8frPrss8Spint1tm1BugSpint1tm1BugPrss8Prss8frSpint1tm1Bug
• exencephaly_F2rl1<tm1Cgh>/F2rl1<tm1Cgh>,Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>,St14<tm1Bug>/St14<+>
  http://metadb.riken.jp/0000914I129P2OlaHsd129S4SvJaeF2rl1tm1CghF2rl1tm1CghSpint2GtKST272BygSpint2GtKST272BygSt14tm1BugSt14F2rl1tm1CghSt14St14tm1BugSpint2GtKST272Byg
• embryonic lethality, complete penetrance_F2rl1<tm1Cgh>/F2rl1<tm1Cgh>,Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>
  http://metadb.riken.jp/0011092I129P2OlaHsd129S4SvJaeF2rl1tm1CghF2rl1tm1CghSpint2GtKST272BygSpint2GtKST272BygSpint2GtKST272BygF2rl1tm1Cgh
• abnormal neural tube morphology_F2r<tm1Ajc>/F2r<tm1Ajc>,F2rl1<tm1Cgh>/F2rl1<tm1Cgh>
  http://metadb.riken.jp/0002151I129S4SvJaeF2rtm1AjcF2rtm1AjcF2rl1tm1CghF2rl1tm1CghF2rl1tm1CghF2rtm1Ajc
• prenatal lethality, incomplete penetrance_Prss8<fr>/Prss8<fr>,Spint1<tm1Bug>/Spint1<tm1Bug>
  http://metadb.riken.jp/0011101I129S6SvEvTacDBAPrss8frPrss8frSpint1tm1BugSpint1tm1BugPrss8frSpint1tm1Bug
• exencephaly_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>,St14<tm1Bug>/St14<+>
  http://metadb.riken.jp/0000914I129P2OlaHsdSpint2GtKST272BygSpint2GtKST272BygSt14tm1BugSt14Spint2GtKST272BygSt14tm1BugSt14
• abnormal placenta morphology_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>,St14<tm1Bug>/St14<+>
  http://metadb.riken.jp/0001711I129P2OlaHsdSpint2GtKST272BygSpint2GtKST272BygSt14tm1BugSt14Spint2GtKST272BygSt14tm1BugSt14
• embryonic lethality during organogenesis, complete penetrance_Spint1<tm1Bug>/Spint1<tm1Bug>
  http://metadb.riken.jp/0011098I129S6SvEvTacSpint1tm1BugSpint1tm1BugSpint1tm1Bug
• exencephaly_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>
  http://metadb.riken.jp/0000914I129P2OlaHsdSpint2GtKST272BygSpint2GtKST272BygSpint2GtKST272Byg
• abnormal epidermis stratum corneum morphology_Prss8<Gt(IST10122F12)Tigm>/Prss8<Gt(IST10122F12)Tigm>
  http://metadb.riken.jp/0001240I129S6SvEvTacBlackSwissC57BL6JC57BL6NPrss8GtIST10122F12TigmPrss8GtIST10122F12TigmPrss8GtIST10122F12Tigm
• exencephaly_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>,St14<tm1Bug>/St14<tm1Bug>
  http://metadb.riken.jp/0000914I129P2OlaHsdSpint2GtKST272BygSpint2GtKST272BygSt14tm1BugSt14tm1BugSpint2GtKST272BygSt14tm1Bug
• embryonic lethality between implantation and placentation, incomplete penetrance_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>
  http://metadb.riken.jp/0011105I129P2OlaHsdSpint2GtKST272BygSpint2GtKST272BygSpint2GtKST272Byg
• curly tail_Prss8<fr>/Prss8<+>,Spint1<tm1Bug>/Spint1<tm1Bug>
  http://metadb.riken.jp/0003051I129S6SvEvTacDBAPrss8frPrss8Spint1tm1BugSpint1tm1BugPrss8Prss8frSpint1tm1Bug
• embryonic lethality, complete penetrance_Prss8<fr>/Prss8<+>,Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>
  http://metadb.riken.jp/0011092I129P2OlaHsdDBAPrss8frPrss8Spint2GtKST272BygSpint2GtKST272BygSpint2GtKST272BygPrss8Prss8fr
• abnormal placenta morphology_Prss8<fr>/Prss8<+>,Spint1<tm1Bug>/Spint1<tm1Bug>
  http://metadb.riken.jp/0001711I129S6SvEvTacDBAPrss8frPrss8Spint1tm1BugSpint1tm1BugPrss8Prss8frSpint1tm1Bug
• spina bifida_F2r<tm1Ajc>/F2r<tm1Ajc>,F2rl1<tm1Cgh>/F2rl1<tm1Cgh>
  http://metadb.riken.jp/0003054I129S4SvJaeF2rtm1AjcF2rtm1AjcF2rl1tm1CghF2rl1tm1CghF2rl1tm1CghF2rtm1Ajc
• curly tail_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>,St14<tm1Bug>/St14<tm1Bug>
  http://metadb.riken.jp/0003051I129P2OlaHsdSpint2GtKST272BygSpint2GtKST272BygSt14tm1BugSt14tm1BugSpint2GtKST272BygSt14tm1Bug
• exencephaly_Prss8<fr>/Prss8<+>,Spint1<tm1Bug>/Spint1<tm1Bug>
  http://metadb.riken.jp/0000914I129S6SvEvTacDBAPrss8frPrss8Spint1tm1BugSpint1tm1BugPrss8Prss8frSpint1tm1Bug
• embryonic lethality during organogenesis, complete penetrance_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>
  http://metadb.riken.jp/0011098I129P2OlaHsdSpint2GtKST272BygSpint2GtKST272BygSpint2GtKST272Byg
• abnormal neural tube morphology_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>
  http://metadb.riken.jp/0002151I129P2OlaHsdSpint2GtKST272BygSpint2GtKST272BygSpint2GtKST272Byg
• embryonic lethality during organogenesis, complete penetrance_Spint1<tm1Bug>/Spint1<tm1Bug>,St14<tm1Bug>/St14<+>
  http://metadb.riken.jp/0011098I129P2OlaHsd129S6SvEvTacSpint1tm1BugSpint1tm1BugSt14tm1BugSt14St14Spint1tm1BugSt14tm1Bug
• embryonic lethality, complete penetrance_Scnn1a<tm1.2Hum>/Scnn1a<tm1.2Hum>,Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>
  http://metadb.riken.jp/0011092I129Sv129P2OlaHsdScnn1atm12HumScnn1atm12HumSpint2GtKST272BygSpint2GtKST272BygScnn1atm12HumSpint2GtKST272Byg
• abnormal coat appearance_Prss8<fr>/Prss8<fr>,Spint1<tm1Bug>/Spint1<tm1Bug>
  http://metadb.riken.jp/0001510I129S6SvEvTacDBAPrss8frPrss8frSpint1tm1BugSpint1tm1BugPrss8frSpint1tm1Bug
• spina bifida_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>,St14<tm1Bug>/St14<tm1Bug>
  http://metadb.riken.jp/0003054I129P2OlaHsdSpint2GtKST272BygSpint2GtKST272BygSt14tm1BugSt14tm1BugSpint2GtKST272BygSt14tm1Bug
• abnormal neural tube morphology_Spint2<Gt(KST272)Byg>/Spint2<Gt(KST272)Byg>,St14<tm1Bug>/St14<tm1Bug>
  http://metadb.riken.jp/0002151I129P2OlaHsdSpint2GtKST272BygSpint2GtKST272BygSt14tm1BugSt14tm1BugSpint2GtKST272BygSt14tm1Bug