abnormal craniofacial morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<+>,Ptch1<tm1Mps>/Ptch1<+>

http://metadb.riken.jp/0000428I129S1Sv129X1SvJHhatTgTFAP2Acre1WillHhatPtch1tm1MpsPtch1HhatPtch1Ptch1tm1MpsHhatTgTFAP2Acre1Will

abnormal craniofacial morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<+>,Ptch1<tm1Mps>/Ptch1<+>

表現型アノテーション

MGI marker

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

• patched 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:105373
• hedgehog acyltransferase
  http://metadb.riken.jp/db/mgi_rdf/MGI:2444681

遺伝子型

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

• Hhat<Tg(TFAP2A-cre)1Will>/Hhat<+>,Ptch1<tm1Mps>/Ptch1<+>

アレルシンボル

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

• Hhat<+>|Ptch1<+>|Ptch1<tm1Mps>|Hhat<Tg(TFAP2A-cre)1Will>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ

MP annotation

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

• abnormal craniofacial morphology
  http://purl.obolibrary.org/obo/MP_0000428

文献

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

• 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