Patrick R. Arsenault, et.al., A knock-in mouse model of human PHD2 gene-associated erythrocytosis establishes a haploinsufficiency mechanism., The Journal of biological chemistry, 2013, 288

http://rdf.ncbi.nlm.nih.gov/pubmed/24121508

Patrick R. Arsenault, et.al., A knock-in mouse model of human PHD2 gene-associated erythrocytosis establishes a haploinsufficiency mechanism., The Journal of biological chemistry, 2013, 288

pubmed

allele

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

• Hif1a<tm3.1Rsjo>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5525150
• Egln1<tm1.1Fsl>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5521374
• Egln1<tm2.1Fsl>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5521468
• Egln1<tm2.2Fsl>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5521471

class

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

• Hif1a<tm3.1Rsjo>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5525150
• Egln1<tm1.1Fsl>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5521374
• Egln1<tm2.1Fsl>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5521468
• Egln1<tm2.2Fsl>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5521471

表現型アノテーション

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

• polycythemia_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Gt(ROSA)26Sor<tm9(cre/ESR1)Arte>/Gt(ROSA)26Sor<+>
  http://metadb.riken.jp/0002872B6CgGtROSA26Sortm9creESR1ArteEgln1tm21FslEgln1tm21FslEgln1tm21FslGtROSA26Sortm9creESR1ArteGtROSA26SorGtROSA26Sortm9creESR1ArteEgln1tm21FslGtROSA26Sor
• increased pulmonary ventilation_Egln1<tm2.2Fsl>/Egln1<+>
  http://metadb.riken.jp/0005575B6CgEgln1tm22FslEgln1tm22FslEgln1Egln1tm22FslEgln1
• increased hematocrit_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Pax3<tm1(cre)Joe>/Pax3<+>
  http://metadb.riken.jp/0002608I129C57BL6Egln1tm21FslEgln1tm21FslPax3tm1creJoePax3Pax3Egln1tm21FslPax3tm1creJoe
• increased liver weight_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Pax3<tm1(cre)Joe>/Pax3<+>
  http://metadb.riken.jp/0002981I129C57BL6Egln1tm21FslEgln1tm21FslPax3tm1creJoePax3Pax3Egln1tm21FslPax3tm1creJoe
• increased erythropoietin level_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Gt(ROSA)26Sor<tm9(cre/ESR1)Arte>/Gt(ROSA)26Sor<+>
  http://metadb.riken.jp/0011287B6CgGtROSA26Sortm9creESR1ArteEgln1tm21FslEgln1tm21FslEgln1tm21FslGtROSA26Sortm9creESR1ArteGtROSA26SorGtROSA26Sortm9creESR1ArteEgln1tm21FslGtROSA26Sor
• increased hemoglobin content_Egln1<tm2.2Fsl>/Egln1<+>
  http://metadb.riken.jp/0005564B6CgEgln1tm22FslEgln1tm22FslEgln1Egln1tm22FslEgln1
• increased spleen weight_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Pax3<tm1(cre)Joe>/Pax3<+>
  http://metadb.riken.jp/0004952I129C57BL6Egln1tm21FslEgln1tm21FslPax3tm1creJoePax3Pax3Egln1tm21FslPax3tm1creJoe
• increased spleen weight_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Gt(ROSA)26Sor<tm9(cre/ESR1)Arte>/Gt(ROSA)26Sor<+>,Hif1a<tm3Rsjo>/Hif1a<tm3Rsjo>
  http://metadb.riken.jp/0004952B6CgGtROSA26Sortm9creESR1ArteEgln1tm21FslHif1atm3RsjoEgln1tm21FslEgln1tm21FslGtROSA26Sortm9creESR1ArteGtROSA26SorHif1atm3RsjoHif1atm3RsjoHif1atm3RsjoGtROSA26Sortm9creESR1ArteGtROSA26SorEgln1tm21Fsl
• polycythemia_Egln1<tm1.1Fsl>/Egln1<+>
  http://metadb.riken.jp/0002872C57BL6Egln1tm11FslEgln1tm11FslEgln1Egln1tm11FslEgln1
• premature death_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Gt(ROSA)26Sor<tm9(cre/ESR1)Arte>/Gt(ROSA)26Sor<+>,Hif1a<tm3Rsjo>/Hif1a<tm3Rsjo>
  http://metadb.riken.jp/0002083B6CgGtROSA26Sortm9creESR1ArteEgln1tm21FslHif1atm3RsjoEgln1tm21FslEgln1tm21FslGtROSA26Sortm9creESR1ArteGtROSA26SorHif1atm3RsjoHif1atm3RsjoHif1atm3RsjoGtROSA26Sortm9creESR1ArteGtROSA26SorEgln1tm21Fsl
• increased hematocrit_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Gt(ROSA)26Sor<tm9(cre/ESR1)Arte>/Gt(ROSA)26Sor<+>
  http://metadb.riken.jp/0002608B6CgGtROSA26Sortm9creESR1ArteEgln1tm21FslEgln1tm21FslEgln1tm21FslGtROSA26Sortm9creESR1ArteGtROSA26SorGtROSA26Sortm9creESR1ArteEgln1tm21FslGtROSA26Sor
• extramedullary hematopoiesis_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Gt(ROSA)26Sor<tm9(cre/ESR1)Arte>/Gt(ROSA)26Sor<+>,Hif1a<tm3Rsjo>/Hif1a<tm3Rsjo>
  http://metadb.riken.jp/0000240B6CgGtROSA26Sortm9creESR1ArteEgln1tm21FslHif1atm3RsjoEgln1tm21FslEgln1tm21FslGtROSA26Sortm9creESR1ArteGtROSA26SorHif1atm3RsjoHif1atm3RsjoHif1atm3RsjoGtROSA26Sortm9creESR1ArteGtROSA26SorEgln1tm21Fsl
• increased spleen weight_Egln1<tm1.1Fsl>/Egln1<+>
  http://metadb.riken.jp/0004952C57BL6Egln1tm11FslEgln1tm11FslEgln1Egln1tm11FslEgln1
• abnormal liver vasculature morphology_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Pax3<tm1(cre)Joe>/Pax3<+>
  http://metadb.riken.jp/0009820I129C57BL6Egln1tm21FslEgln1tm21FslPax3tm1creJoePax3Pax3Egln1tm21FslPax3tm1creJoe
• premature death_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Epas1<tm1Mcs>/Epas1<tm1Mcs>,Gt(ROSA)26Sor<tm9(cre/ESR1)Arte>/Gt(ROSA)26Sor<+>
  http://metadb.riken.jp/0002083B6CgGtROSA26Sortm9creESR1ArteEgln1tm21FslEpas1tm1McsEgln1tm21FslEgln1tm21FslEpas1tm1McsEpas1tm1McsGtROSA26Sortm9creESR1ArteGtROSA26SorEpas1tm1McsGtROSA26SorEgln1tm21FslGtROSA26Sortm9creESR1Arte
• increased hematocrit_Egln1<tm1.1Fsl>/Egln1<+>
  http://metadb.riken.jp/0002608C57BL6Egln1tm11FslEgln1tm11FslEgln1Egln1tm11FslEgln1
• increased hemoglobin content_Egln1<tm1.1Fsl>/Egln1<+>
  http://metadb.riken.jp/0005564C57BL6Egln1tm11FslEgln1tm11FslEgln1Egln1tm11FslEgln1
• polycythemia_Egln1<tm2.1Fsl>/Egln1<+>,Pax3<tm1(cre)Joe>/Pax3<+>
  http://metadb.riken.jp/0002872I129C57BL6Egln1tm21FslEgln1Pax3tm1creJoePax3Pax3tm1creJoeEgln1tm21FslEgln1Pax3
• increased hemoglobin content_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Tg(Vav1-icre)A2Kio/0
  http://metadb.riken.jp/0005564B6CgEgln1tm21FslTgVav1icreA2KioEgln1tm21FslEgln1tm21FslTgVav1icreA2Kio0Egln1tm21FslTgVav1icreA2Kio
• increased spleen weight_Egln1<tm2.2Fsl>/Egln1<+>
  http://metadb.riken.jp/0004952B6CgEgln1tm22FslEgln1tm22FslEgln1Egln1tm22FslEgln1
• premature death_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Tg(Cdh5-cre)7Mlia/0
  http://metadb.riken.jp/0002083B6CgEgln1tm21FslTgCdh5cre7MliaEgln1tm21FslEgln1tm21FslTgCdh5cre7Mlia0Egln1tm21FslTgCdh5cre7Mlia
• increased heart weight_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Tg(Cdh5-cre)7Mlia/0
  http://metadb.riken.jp/0002833B6CgEgln1tm21FslTgCdh5cre7MliaEgln1tm21FslEgln1tm21FslTgCdh5cre7Mlia0Egln1tm21FslTgCdh5cre7Mlia
• increased tidal volume_Egln1<tm1.1Fsl>/Egln1<+>
  http://metadb.riken.jp/0005585C57BL6Egln1tm11FslEgln1tm11FslEgln1Egln1tm11FslEgln1
• premature death_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Gt(ROSA)26Sor<tm9(cre/ESR1)Arte>/Gt(ROSA)26Sor<+>
  http://metadb.riken.jp/0002083B6CgGtROSA26Sortm9creESR1ArteEgln1tm21FslEgln1tm21FslEgln1tm21FslGtROSA26Sortm9creESR1ArteGtROSA26SorGtROSA26Sortm9creESR1ArteEgln1tm21FslGtROSA26Sor
• increased erythropoietin level_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Gt(ROSA)26Sor<tm9(cre/ESR1)Arte>/Gt(ROSA)26Sor<+>,Hif1a<tm3Rsjo>/Hif1a<tm3Rsjo>
  http://metadb.riken.jp/0011287B6CgGtROSA26Sortm9creESR1ArteEgln1tm21FslHif1atm3RsjoEgln1tm21FslEgln1tm21FslGtROSA26Sortm9creESR1ArteGtROSA26SorHif1atm3RsjoHif1atm3RsjoHif1atm3RsjoGtROSA26Sortm9creESR1ArteGtROSA26SorEgln1tm21Fsl
• prenatal lethality, complete penetrance_Egln1<tm1.1Fsl>/Egln1<tm1.1Fsl>
  http://metadb.riken.jp/0011091C57BL6Egln1tm11FslEgln1tm11FslEgln1tm11FslEgln1tm11Fsl
• increased spleen weight_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Gt(ROSA)26Sor<tm9(cre/ESR1)Arte>/Gt(ROSA)26Sor<+>
  http://metadb.riken.jp/0004952B6CgGtROSA26Sortm9creESR1ArteEgln1tm21FslEgln1tm21FslEgln1tm21FslGtROSA26Sortm9creESR1ArteGtROSA26SorGtROSA26Sortm9creESR1ArteEgln1tm21FslGtROSA26Sor
• increased hematocrit_Egln1<tm1.1Fsl>/Egln1<+>,Hif1a<tm3.1Rsjo>/Hif1a<+>
  http://metadb.riken.jp/0002608B6CgEgln1tm11FslHif1atm31RsjoEgln1tm11FslEgln1Hif1atm31RsjoHif1aEgln1Egln1tm11FslHif1aHif1atm31Rsjo
• increased hematocrit_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Tg(Vav1-icre)A2Kio/0
  http://metadb.riken.jp/0002608B6CgEgln1tm21FslTgVav1icreA2KioEgln1tm21FslEgln1tm21FslTgVav1icreA2Kio0Egln1tm21FslTgVav1icreA2Kio
• polycythemia_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Tg(Vav1-icre)A2Kio/0
  http://metadb.riken.jp/0002872B6CgEgln1tm21FslTgVav1icreA2KioEgln1tm21FslEgln1tm21FslTgVav1icreA2Kio0Egln1tm21FslTgVav1icreA2Kio
• extramedullary hematopoiesis_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Gt(ROSA)26Sor<tm9(cre/ESR1)Arte>/Gt(ROSA)26Sor<+>
  http://metadb.riken.jp/0000240B6CgGtROSA26Sortm9creESR1ArteEgln1tm21FslEgln1tm21FslEgln1tm21FslGtROSA26Sortm9creESR1ArteGtROSA26SorGtROSA26Sortm9creESR1ArteEgln1tm21FslGtROSA26Sor
• increased hematocrit_Egln1<tm2.2Fsl>/Egln1<+>
  http://metadb.riken.jp/0002608B6CgEgln1tm22FslEgln1tm22FslEgln1Egln1tm22FslEgln1
• increased hematocrit_Egln1<tm2.1Fsl>/Egln1<+>,Pax3<tm1(cre)Joe>/Pax3<+>
  http://metadb.riken.jp/0002608I129C57BL6Egln1tm21FslEgln1Pax3tm1creJoePax3Pax3tm1creJoeEgln1tm21FslEgln1Pax3
• polycythemia_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Pax3<tm1(cre)Joe>/Pax3<+>
  http://metadb.riken.jp/0002872I129C57BL6Egln1tm21FslEgln1tm21FslPax3tm1creJoePax3Pax3Egln1tm21FslPax3tm1creJoe
• increased heart weight_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Pax3<tm1(cre)Joe>/Pax3<+>
  http://metadb.riken.jp/0002833I129C57BL6Egln1tm21FslEgln1tm21FslPax3tm1creJoePax3Pax3Egln1tm21FslPax3tm1creJoe
• increased erythroid progenitor cell number_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Tg(Vav1-icre)A2Kio/0
  http://metadb.riken.jp/0003135B6CgEgln1tm21FslTgVav1icreA2KioEgln1tm21FslEgln1tm21FslTgVav1icreA2Kio0Egln1tm21FslTgVav1icreA2Kio
• prenatal lethality, complete penetrance_Egln1<tm2.2Fsl>/Egln1<tm2.2Fsl>
  http://metadb.riken.jp/0011091B6CgEgln1tm22FslEgln1tm22FslEgln1tm22FslEgln1tm22Fsl
• polycythemia_Egln1<tm2.2Fsl>/Egln1<+>
  http://metadb.riken.jp/0002872B6CgEgln1tm22FslEgln1tm22FslEgln1Egln1tm22FslEgln1
• increased pulmonary ventilation_Egln1<tm1.1Fsl>/Egln1<+>
  http://metadb.riken.jp/0005575C57BL6Egln1tm11FslEgln1tm11FslEgln1Egln1tm11FslEgln1
• increased hematocrit_Egln1<tm2.1Fsl>/Egln1<tm2.1Fsl>,Gt(ROSA)26Sor<tm9(cre/ESR1)Arte>/Gt(ROSA)26Sor<+>,Hif1a<tm3Rsjo>/Hif1a<tm3Rsjo>
  http://metadb.riken.jp/0002608B6CgGtROSA26Sortm9creESR1ArteEgln1tm21FslHif1atm3RsjoEgln1tm21FslEgln1tm21FslGtROSA26Sortm9creESR1ArteGtROSA26SorHif1atm3RsjoHif1atm3RsjoHif1atm3RsjoGtROSA26Sortm9creESR1ArteGtROSA26SorEgln1tm21Fsl