Talat H. Malik, et.al., Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes., Molecular and cellular biology, 2002, 22

http://rdf.ncbi.nlm.nih.gov/pubmed/12446778

Talat H. Malik, et.al., Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes., Molecular and cellular biology, 2002, 22

pubmed

allele

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

• Trps1<tm1Shiv>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2446569
• Trps1<tm1.1Shiv>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2446570

class

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

• Trps1<tm1Shiv>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2446569
• Trps1<tm1.1Shiv>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2446570

表現型アノテーション

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

• neonatal lethality, complete penetrance_Trps1<tm1Shiv>/Trps1<tm1Shiv>
  http://metadb.riken.jp/0011087EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm1ShivTrps1tm1ShivTrps1tm1Shiv
• decreased bone mineral density_Trps1<tm1.1Shiv>/Trps1<+>
  http://metadb.riken.jp/0000063EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1Trps1Trps1tm11Shiv
• respiratory failure_Trps1<tm1.1Shiv>/Trps1<tm1.1Shiv>
  http://metadb.riken.jp/0001953EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1tm11ShivTrps1tm11Shiv
• micrognathia_Trps1<tm1.1Shiv>/Trps1<+>
  http://metadb.riken.jp/0002639EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1Trps1Trps1tm11Shiv
• decreased hair follicle number_Trps1<tm1.1Shiv>/Trps1<tm1.1Shiv>
  http://metadb.riken.jp/0000379EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1tm11ShivTrps1tm11Shiv
• abnormal rib morphology_Trps1<tm1.1Shiv>/Trps1<tm1.1Shiv>
  http://metadb.riken.jp/0000150EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1tm11ShivTrps1tm11Shiv
• scoliosis_Trps1<tm1.1Shiv>/Trps1<tm1.1Shiv>
  http://metadb.riken.jp/0000161EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1tm11ShivTrps1tm11Shiv
• atelectasis_Trps1<tm1.1Shiv>/Trps1<tm1.1Shiv>
  http://metadb.riken.jp/0001177EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1tm11ShivTrps1tm11Shiv
• delayed endochondral bone ossification_Trps1<tm1.1Shiv>/Trps1<tm1.1Shiv>
  http://metadb.riken.jp/0003419EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1tm11ShivTrps1tm11Shiv
• micrognathia_Trps1<tm1.1Shiv>/Trps1<tm1.1Shiv>
  http://metadb.riken.jp/0002639EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1tm11ShivTrps1tm11Shiv
• thick pulmonary interalveolar septum_Trps1<tm1.1Shiv>/Trps1<tm1.1Shiv>
  http://metadb.riken.jp/0001179EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1tm11ShivTrps1tm11Shiv
• small thoracic cage_Trps1<tm1.1Shiv>/Trps1<tm1.1Shiv>
  http://metadb.riken.jp/0010103EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1tm11ShivTrps1tm11Shiv
• neonatal lethality, complete penetrance_Trps1<tm1.1Shiv>/Trps1<tm1.1Shiv>
  http://metadb.riken.jp/0011087EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1tm11ShivTrps1tm11Shiv
• abnormal pulmonary alveolus morphology_Trps1<tm1.1Shiv>/Trps1<tm1.1Shiv>
  http://metadb.riken.jp/0002270EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1tm11ShivTrps1tm11Shiv
• kyphoscoliosis_Trps1<tm1.1Shiv>/Trps1<+>
  http://metadb.riken.jp/0000069EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1Trps1Trps1tm11Shiv
• decreased hair follicle number_Trps1<tm1.1Shiv>/Trps1<+>
  http://metadb.riken.jp/0000379EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1Trps1Trps1tm11Shiv
• absent vibrissae_Trps1<tm1.1Shiv>/Trps1<tm1.1Shiv>
  http://metadb.riken.jp/0001284EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1tm11ShivTrps1tm11Shiv
• arched palate_Trps1<tm1.1Shiv>/Trps1<+>
  http://metadb.riken.jp/0003761EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1Trps1Trps1tm11Shiv
• abnormal pulmonary alveolus epithelial cell morphology_Trps1<tm1.1Shiv>/Trps1<tm1.1Shiv>
  http://metadb.riken.jp/0002273EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1tm11ShivTrps1tm11Shiv
• abnormal thoracic cage shape_Trps1<tm1.1Shiv>/Trps1<tm1.1Shiv>
  http://metadb.riken.jp/0010099EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1tm11ShivTrps1tm11Shiv
• thin ribs_Trps1<tm1.1Shiv>/Trps1<tm1.1Shiv>
  http://metadb.riken.jp/0004674EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1tm11ShivTrps1tm11Shiv
• arched palate_Trps1<tm1.1Shiv>/Trps1<tm1.1Shiv>
  http://metadb.riken.jp/0003761EI129S4SvJaeorI129S4SvJaeBALBcorI129S4SvJaeC57BL6Trps1tm11ShivTrps1tm11ShivTrps1tm11Shiv

トランスクリプトームデータ

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

• CD39933
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD39933