Yi-Ru. Yu, et.al., Role of OVCA1/DPH1 in craniofacial abnormalities of Miller-Dieker syndrome., Human molecular genetics, 2014, 23

http://rdf.ncbi.nlm.nih.gov/pubmed/24895408

Yi-Ru. Yu, et.al., Role of OVCA1/DPH1 in craniofacial abnormalities of Miller-Dieker syndrome., Human molecular genetics, 2014, 23

pubmed

allele

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

• Dph1<tm1.1Cmch>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5648733

class

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

• Dph1<tm1.1Cmch>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5648733

表現型アノテーション

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

• absent palatine bone_Dph1<tm2Bhr>/Dph1<tm2Bhr>
  http://metadb.riken.jp/0004476I129S4SvJaeC57BL6JDph1tm2BhrDph1tm2BhrDph1tm2Bhr
• acephaly_Dph1<tm2Bhr>/Dph1<+>,Gt(ROSA)26Sor<tm1(DTA)Jpmb>/Gt(ROSA)26Sor<+>,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0009579I129SSvEv129S4SvJaeC57BL6JCBAJDph1tm2BhrDph1GtROSA26Sortm1DTAJpmbGtROSA26SorTgWnt1cre11Rth0Dph1GtROSA26SorTgWnt1cre11RthDph1tm2BhrGtROSA26Sortm1DTAJpmb
• cleft palate_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Tg(Sox2-cre)1Amc/0
  http://metadb.riken.jp/0000111I129S1Sv129X1SvJC57BL6C57BL6JCBADph1tm11CmchDph1tm11CmchTgSox2cre1Amc0Dph1tm11CmchTgSox2cre1Amc
• decreased body size_Dph1<tm2Bhr>/Dph1<tm2Bhr>
  http://metadb.riken.jp/0001265I129S4SvJaeC57BL6JDph1tm2BhrDph1tm2BhrDph1tm2Bhr
• decreased cranium length_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0011862I129S1Sv129X1SvJC57BL6JCBAJDph1tm11CmchDph1tm11CmchTgWnt1cre11Rth0Dph1tm11CmchTgWnt1cre11Rth
• small nasal bone_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Gt(ROSA)26Sor<tm4(ACTB-tdTomato,-EGFP)Luo>/Gt(ROSA)26Sor<+>,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0004470I129S1Sv129X1SvJC57BL6JCBAJDph1tm11CmchDph1tm11CmchGtROSA26Sortm4ACTBtdTomatoEGFPLuoGtROSA26SorTgWnt1cre11Rth0GtROSA26SorDph1tm11CmchTgWnt1cre11RthGtROSA26Sortm4ACTBtdTomatoEGFPLuo
• absent palatine bone_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Tg(Sox2-cre)1Amc/0
  http://metadb.riken.jp/0004476I129S1Sv129X1SvJC57BL6C57BL6JCBADph1tm11CmchDph1tm11CmchTgSox2cre1Amc0Dph1tm11CmchTgSox2cre1Amc
• postnatal lethality, incomplete penetrance_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Mesp1<tm2(cre)Ysa>/Mesp1<+>
  http://metadb.riken.jp/0011086I129S1Sv129X1SvJC57BL6JC57BL6NCrljCBAJNCrljDph1tm11CmchDph1tm11CmchMesp1tm2creYsaMesp1Mesp1Dph1tm11CmchMesp1tm2creYsa
• abnormal tongue morphology_Dph1<tm2Bhr>/Dph1<tm2Bhr>
  http://metadb.riken.jp/0000762I129S4SvJaeC57BL6JDph1tm2BhrDph1tm2BhrDph1tm2Bhr
• palatal shelves fail to meet at midline_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Tg(Sox2-cre)1Amc/0
  http://metadb.riken.jp/0009888I129S1Sv129X1SvJC57BL6C57BL6JCBADph1tm11CmchDph1tm11CmchTgSox2cre1Amc0Dph1tm11CmchTgSox2cre1Amc
• short mandible_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0000088I129S1Sv129X1SvJC57BL6JCBAJDph1tm11CmchDph1tm11CmchTgWnt1cre11Rth0Dph1tm11CmchTgWnt1cre11Rth
• small cranium_Dph1<tm2Bhr>/Dph1<tm2Bhr>
  http://metadb.riken.jp/0005352I129S4SvJaeC57BL6JDph1tm2BhrDph1tm2BhrDph1tm2Bhr
• cleft secondary palate_Dph1<tm2Bhr>/Dph1<tm2Bhr>
  http://metadb.riken.jp/0009890I129S4SvJaeC57BL6JDph1tm2BhrDph1tm2BhrDph1tm2Bhr
• abnormal tongue morphology_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Tg(Sox2-cre)1Amc/0
  http://metadb.riken.jp/0000762I129S1Sv129X1SvJC57BL6C57BL6JCBADph1tm11CmchDph1tm11CmchTgSox2cre1Amc0Dph1tm11CmchTgSox2cre1Amc
• short mandible_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Tg(Sox2-cre)1Amc/0
  http://metadb.riken.jp/0000088I129S1Sv129X1SvJC57BL6C57BL6JCBADph1tm11CmchDph1tm11CmchTgSox2cre1Amc0Dph1tm11CmchTgSox2cre1Amc
• fetal growth retardation_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Tg(Sox2-cre)1Amc/0
  http://metadb.riken.jp/0004201I129S1Sv129X1SvJC57BL6C57BL6JCBADph1tm11CmchDph1tm11CmchTgSox2cre1Amc0Dph1tm11CmchTgSox2cre1Amc
• embryonic lethality, complete penetrance_Dph1<tm2Bhr>/Dph1<+>,Gt(ROSA)26Sor<tm1(DTA)Jpmb>/Gt(ROSA)26Sor<+>,Mesp1<tm2(cre)Ysa>/Mesp1<+>
  http://metadb.riken.jp/0011092I129SSvEv129S4SvJaeC57BL6JC57BL6NCrljCBAJNCrljDph1tm2BhrDph1GtROSA26Sortm1DTAJpmbGtROSA26SorMesp1tm2creYsaMesp1Mesp1GtROSA26SorDph1tm2BhrGtROSA26Sortm1DTAJpmbDph1Mesp1tm2creYsa
• postnatal lethality, incomplete penetrance_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0011086I129S1Sv129X1SvJC57BL6JCBAJDph1tm11CmchDph1tm11CmchTgWnt1cre11Rth0Dph1tm11CmchTgWnt1cre11Rth
• abnormal Meckel's cartilage morphology_Dph1<tm2Bhr>/Dph1<tm2Bhr>
  http://metadb.riken.jp/0005587I129S4SvJaeC57BL6JDph1tm2BhrDph1tm2BhrDph1tm2Bhr
• abnormal mandible morphology_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Tg(Sox2-cre)1Amc/0
  http://metadb.riken.jp/0000458I129S1Sv129X1SvJC57BL6C57BL6JCBADph1tm11CmchDph1tm11CmchTgSox2cre1Amc0Dph1tm11CmchTgSox2cre1Amc
• short nasal bone_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0004471I129S1Sv129X1SvJC57BL6JCBAJDph1tm11CmchDph1tm11CmchTgWnt1cre11Rth0Dph1tm11CmchTgWnt1cre11Rth
• cleft palate_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0000111I129S1Sv129X1SvJC57BL6JCBAJDph1tm11CmchDph1tm11CmchTgWnt1cre11Rth0Dph1tm11CmchTgWnt1cre11Rth
• abnormal secondary palate development_Dph1<tm2Bhr>/Dph1<tm2Bhr>
  http://metadb.riken.jp/0009655I129S4SvJaeC57BL6JDph1tm2BhrDph1tm2BhrDph1tm2Bhr
• abnormal Meckel's cartilage morphology_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0005587I129S1Sv129X1SvJC57BL6JCBAJDph1tm11CmchDph1tm11CmchTgWnt1cre11Rth0Dph1tm11CmchTgWnt1cre11Rth
• abnormal facial morphology_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0003743I129S1Sv129X1SvJC57BL6JCBAJDph1tm11CmchDph1tm11CmchTgWnt1cre11Rth0Dph1tm11CmchTgWnt1cre11Rth
• embryonic lethality, complete penetrance_Gt(ROSA)26Sor<tm1(DTA)Jpmb>/Gt(ROSA)26Sor<+>,Mesp1<tm2(cre)Ysa>/Mesp1<+>
  http://metadb.riken.jp/0011092I129SSvEvC57BL6NCrljCBAJNCrljGtROSA26Sortm1DTAJpmbGtROSA26SorMesp1tm2creYsaMesp1Mesp1tm2creYsaGtROSA26SorGtROSA26Sortm1DTAJpmbMesp1
• small cranium_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Tg(Sox2-cre)1Amc/0
  http://metadb.riken.jp/0005352I129S1Sv129X1SvJC57BL6C57BL6JCBADph1tm11CmchDph1tm11CmchTgSox2cre1Amc0Dph1tm11CmchTgSox2cre1Amc
• neonatal lethality, complete penetrance_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Tg(Sox2-cre)1Amc/0
  http://metadb.riken.jp/0011087I129S1Sv129X1SvJC57BL6C57BL6JCBADph1tm11CmchDph1tm11CmchTgSox2cre1Amc0Dph1tm11CmchTgSox2cre1Amc
• lethality at weaning, complete penetrance_Dph1<tm2Bhr>/Dph1<tm2Bhr>
  http://metadb.riken.jp/0011083I129S4SvJaeC57BL6JDph1tm2BhrDph1tm2BhrDph1tm2Bhr
• pallor_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Tg(Sox2-cre)1Amc/0
  http://metadb.riken.jp/0003717I129S1Sv129X1SvJC57BL6C57BL6JCBADph1tm11CmchDph1tm11CmchTgSox2cre1Amc0Dph1tm11CmchTgSox2cre1Amc
• edema_Dph1<tm1.1Cmch>/Dph1<tm1.1Cmch>,Tg(Sox2-cre)1Amc/0
  http://metadb.riken.jp/0001785I129S1Sv129X1SvJC57BL6C57BL6JCBADph1tm11CmchDph1tm11CmchTgSox2cre1Amc0Dph1tm11CmchTgSox2cre1Amc
• preaxial polydactyly_Dph1<tm2Bhr>/Dph1<tm2Bhr>
  http://metadb.riken.jp/0009743I129S4SvJaeC57BL6JDph1tm2BhrDph1tm2BhrDph1tm2Bhr
• palatal shelves fail to meet at midline_Dph1<tm2Bhr>/Dph1<tm2Bhr>
  http://metadb.riken.jp/0009888I129S4SvJaeC57BL6JDph1tm2BhrDph1tm2BhrDph1tm2Bhr
• micrognathia_Dph1<tm2Bhr>/Dph1<tm2Bhr>
  http://metadb.riken.jp/0002639I129S4SvJaeC57BL6JDph1tm2BhrDph1tm2BhrDph1tm2Bhr