Rodolphe. Soret, et.al., A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease., The Journal of clinical investigation, 2015, 125

http://rdf.ncbi.nlm.nih.gov/pubmed/26571399

Rodolphe. Soret, et.al., A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease., The Journal of clinical investigation, 2015, 125

pubmed

allele

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

• Tg(Sox3-GFP,Tyr)HolNpln
  http://metadb.riken.jp/db/mgi_rdf/MGI:5774447

class

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

• Tg(Sox3-GFP,Tyr)HolNpln
  http://metadb.riken.jp/db/mgi_rdf/MGI:5774447

表現型アノテーション

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

• hunched posture_Tg(Sox3-GFP,Tyr)HolNpln/Tg(Sox3-GFP,Tyr)HolNpln
  http://metadb.riken.jp/0001505IFVBNTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNpln
• distended abdomen_Tg(Sox3-GFP,Tyr)HolNpln/Tg(Sox3-GFP,Tyr)HolNpln
  http://metadb.riken.jp/0001270IFVBNTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNpln
• abnormal enteric ganglia morphology_Tg(Sox3-GFP,Tyr)HolNpln/Tg(Sox3-GFP,Tyr)HolNpln
  http://metadb.riken.jp/0001045IFVBNTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNpln
• abnormal enteric neural crest cell migration_Gata4<tm1(cre)Svs>/Gata4<+>,Tg(Sox3-GFP,Tyr)HolNpln/Tg(Sox3-GFP,Tyr)HolNpln
  http://metadb.riken.jp/0013006I129S1Sv129X1SvJFVBNGata4tm1creSvsGata4TgSox3GFPTyrHolNplnTgSox3GFPTyrHolNplnGata4tm1creSvsGata4TgSox3GFPTyrHolNpln
• postnatal lethality, complete penetrance_Tg(Sox3-GFP,Tyr)HolNpln/Tg(Sox3-GFP,Tyr)HolNpln
  http://metadb.riken.jp/0011085IFVBNTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNpln
• abnormal enteric neural crest cell migration_Tg(Sox3-GFP,Tyr)HolNpln/Tg(Sox3-GFP,Tyr)HolNpln
  http://metadb.riken.jp/0013006IFVBNTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNpln
• ruffled hair_Tg(Sox3-GFP,Tyr)HolNpln/Tg(Sox3-GFP,Tyr)HolNpln
  http://metadb.riken.jp/0000420IFVBNTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNpln
• abnormal coat/hair pigmentation_Tg(Sox3-GFP,Tyr)HolNpln/0
  http://metadb.riken.jp/0002075IFVBNTgSox3GFPTyrHolNpln0TgSox3GFPTyrHolNpln
• postnatal growth retardation_Tg(Sox3-GFP,Tyr)HolNpln/Tg(Sox3-GFP,Tyr)HolNpln
  http://metadb.riken.jp/0001732IFVBNTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNpln
• decreased neuronal precursor cell number_Gata4<tm1(cre)Svs>/Gata4<+>,Tg(Sox3-GFP,Tyr)HolNpln/Tg(Sox3-GFP,Tyr)HolNpln
  http://metadb.riken.jp/0004981I129S1Sv129X1SvJFVBNGata4tm1creSvsGata4TgSox3GFPTyrHolNplnTgSox3GFPTyrHolNplnGata4tm1creSvsGata4TgSox3GFPTyrHolNpln
• abnormal coat/hair pigmentation_Tg(Sox3-GFP,Tyr)HolNpln/Tg(Sox3-GFP,Tyr)HolNpln
  http://metadb.riken.jp/0002075IFVBNTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNpln
• abnormal enteric nervous system morphology_Tg(Sox3-GFP,Tyr)HolNpln/Tg(Sox3-GFP,Tyr)HolNpln
  http://metadb.riken.jp/0001044IFVBNTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNpln
• aganglionic megacolon_Tg(Sox3-GFP,Tyr)HolNpln/Tg(Sox3-GFP,Tyr)HolNpln
  http://metadb.riken.jp/0002926IFVBNTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNplnTgSox3GFPTyrHolNpln