Joe. Rainger, et.al., Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice., PLoS genetics, 2011, 7

http://rdf.ncbi.nlm.nih.gov/pubmed/21750680

Joe. Rainger, et.al., Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice., PLoS genetics, 2011, 7

pubmed

表現型アノテーション

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

• abnormal retinal pigment epithelium morphology_Smoc1<tm1a(EUCOMM)Wtsi>/Smoc1<tm1a(EUCOMM)Wtsi>
  http://metadb.riken.jp/0005201C57BL6NSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsi
• syndactyly_Smoc1<tm1a(EUCOMM)Wtsi>/Smoc1<tm1a(EUCOMM)Wtsi>
  http://metadb.riken.jp/0000564C57BL6NSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsi
• neonatal lethality, complete penetrance_Smoc1<tm1a(EUCOMM)Wtsi>/Smoc1<tm1a(EUCOMM)Wtsi>
  http://metadb.riken.jp/0011087C57BL6NSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsi
• optic nerve hypoplasia_Smoc1<tm1a(EUCOMM)Wtsi>/Smoc1<tm1a(EUCOMM)Wtsi>
  http://metadb.riken.jp/0006221C57BL6NSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsi
• decreased embryo size_Smoc1<tm1a(EUCOMM)Wtsi>/Smoc1<tm1a(EUCOMM)Wtsi>
  http://metadb.riken.jp/0001698C57BL6NSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsi
• decreased body size_Smoc1<tm1a(EUCOMM)Wtsi>/Smoc1<tm1a(EUCOMM)Wtsi>
  http://metadb.riken.jp/0001265C57BL6NSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsi
• retina coloboma_Smoc1<tm1a(EUCOMM)Wtsi>/Smoc1<tm1a(EUCOMM)Wtsi>
  http://metadb.riken.jp/0010715C57BL6NSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsi
• iris coloboma_Smoc1<tm1a(EUCOMM)Wtsi>/Smoc1<tm1a(EUCOMM)Wtsi>
  http://metadb.riken.jp/0010714C57BL6NSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsi
• absent fibula_Smoc1<tm1a(EUCOMM)Wtsi>/Smoc1<tm1a(EUCOMM)Wtsi>
  http://metadb.riken.jp/0005430C57BL6NSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsi
• cleft palate_Smoc1<tm1a(EUCOMM)Wtsi>/Smoc1<tm1a(EUCOMM)Wtsi>
  http://metadb.riken.jp/0000111C57BL6NSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsiSmoc1tm1aEUCOMMWtsi