clubfoot_Pitx1<tm1Rsd>/Pitx1<+>

http://metadb.riken.jp/0000576I129S1Sv129X1SvJPitx1tm1RsdPitx1Pitx1Pitx1tm1Rsd

clubfoot_Pitx1<tm1Rsd>/Pitx1<+>

表現型アノテーション

MGI marker

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

• paired-like homeodomain transcription factor 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:107374

遺伝子型

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

• Pitx1<tm1Rsd>/Pitx1<+>

アレルシンボル

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

• Pitx1<+>|Pitx1<tm1Rsd>

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

• clubfoot
  http://purl.obolibrary.org/obo/MP_0000576

文献

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

• David M. Alvarado, et.al., Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice., Human molecular genetics, 2011, 20
  http://rdf.ncbi.nlm.nih.gov/pubmed/21775501