Jennifer F. Dennis, et.al., Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects., PLoS genetics, 2012, 8

http://rdf.ncbi.nlm.nih.gov/pubmed/23055936

Jennifer F. Dennis, et.al., Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects., PLoS genetics, 2012, 8

pubmed

表現型アノテーション

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

• abnormal craniofacial morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<+>,Shh<tm1Chg>/Shh<+>
  http://metadb.riken.jp/0000428I129S1Sv129X1SvJHhatTgTFAP2Acre1WillHhatShhtm1ChgShhHhatShhShhtm1ChgHhatTgTFAP2Acre1Will
• absent parietal bone_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0004419NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal trigeminal ganglion morphology_Gt(ROSA)26Sor<tm1Sor>/Gt(ROSA)26Sor<+>,Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0001092I129S1Sv129S4SvJaeSor129X1SvJC57BL6CBAGtROSA26Sortm1SorGtROSA26SorHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillTgWnt1cre11Rth0TgWnt1cre11RthHhatTgTFAP2Acre1WillGtROSA26SorGtROSA26Sortm1Sor
• abnormal eye development_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0001286NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• diencephalon hypoplasia_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0012092NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal cranium morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0000438NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal cranial ganglia morphology_Gt(ROSA)26Sor<tm1Sor>/Gt(ROSA)26Sor<+>,Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0001081I129S1Sv129S4SvJaeSor129X1SvJC57BL6CBAGtROSA26Sortm1SorGtROSA26SorHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillTgWnt1cre11Rth0TgWnt1cre11RthHhatTgTFAP2Acre1WillGtROSA26SorGtROSA26Sortm1Sor
• acrania_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0003104NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• hemorrhage_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0001914NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• absent supraoccipital bone_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0004443NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal palate development_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0009653NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• absent cornea_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0012247NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• absent tooth primordium_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0000117NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal neural crest cell morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0009845NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal nasal capsule morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0004726NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• absent mandible_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0000087NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal forebrain morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0000783NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• small embryonic telencephalon_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0000936NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal mandible morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0000458NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• failure of bone ossification_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0008274NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal cartilage development_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0000164NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• absent interparietal bone_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0004383NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal mandibular prominence morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0010939NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• microphthalmia_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0001297NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• absent nasal septum_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0004872NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• edema_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0001785NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• small basioccipital bone_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0004447NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal frontonasal prominence morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0009901NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal palatal shelf elevation_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0009885NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal vertebral column morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0004703NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• oligodactyly_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0000565NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• small exoccipital bone_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0004445NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal craniofacial morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<+>,Ptch1<tm1Mps>/Ptch1<+>
  http://metadb.riken.jp/0000428I129S1Sv129X1SvJHhatTgTFAP2Acre1WillHhatPtch1tm1MpsPtch1HhatPtch1Ptch1tm1MpsHhatTgTFAP2Acre1Will
• abnormal neural crest morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0009846NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• prenatal lethality, complete penetrance_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0011091NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal midbrain morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0000897NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal nasal cavity morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0002237NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• small trigeminal ganglion_Gt(ROSA)26Sor<tm1Sor>/Gt(ROSA)26Sor<+>,Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0001093I129S1Sv129S4SvJaeSor129X1SvJC57BL6CBAGtROSA26Sortm1SorGtROSA26SorHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillTgWnt1cre11Rth0TgWnt1cre11RthHhatTgTFAP2Acre1WillGtROSA26SorGtROSA26Sortm1Sor
• tongue hypoplasia_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0009904NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• decreased embryo size_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0001698NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal optic vesicle formation_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0003425NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal maxillary prominence morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0010940NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will
• abnormal mouth morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<Tg(TFAP2A-cre)1Will>
  http://metadb.riken.jp/0000452NSHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1WillHhatTgTFAP2Acre1Will