abnormal craniofacial morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<+>,Shh<tm1Chg>/Shh<+>

http://metadb.riken.jp/0000428I129S1Sv129X1SvJHhatTgTFAP2Acre1WillHhatShhtm1ChgShhHhatShhShhtm1ChgHhatTgTFAP2Acre1Will

abnormal craniofacial morphology_Hhat<Tg(TFAP2A-cre)1Will>/Hhat<+>,Shh<tm1Chg>/Shh<+>

表現型アノテーション

MGI marker

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

• sonic hedgehog
  http://metadb.riken.jp/db/mgi_rdf/MGI:98297
• 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<+>,Shh<tm1Chg>/Shh<+>

アレルシンボル

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

• Hhat<+>|Shh<+>|Shh<tm1Chg>|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