Cheng. Cui, et.al., Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome., Disease models & mechanisms, 2011, 4

http://rdf.ncbi.nlm.nih.gov/pubmed/21045211

Cheng. Cui, et.al., Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome., Disease models & mechanisms, 2011, 4

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

トランスクリプトームデータ

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

• CD28848
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD28848
• CD15790
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD15790
• CD03199
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD03199

allele

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

• Mks1<hlb614>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4887578

表現型アノテーション

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

• abnormal floor plate morphology_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0000925IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• pericardial effusion_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0005312IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• domed cranium_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0000440IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• abnormal cochlear hair cell morphology_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0002622IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• heterotaxia_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0004133IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• enophthalmos_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0006198IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• mandible hypoplasia_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0000460IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• polydactyly_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0000562IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• abnormal liver morphology_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0000598IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• dextrocardia_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0000644IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• accessory spleen_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0003342IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• decreased embryonic cilium length_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0011998IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• microphthalmia_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0001297IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• abnormal direction of heart looping_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0004252IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• cleft upper lip_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0005170IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• pointed snout_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0000448IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• abnormal craniofacial morphology_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0000428IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• abnormal sternum morphology_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0000157IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• enlarged kidney_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0003068IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• abnormal renal glomerular capsule morphology_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0002828IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• abnormal cochlear outer hair cell morphology_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0004399IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• liver cysts_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0003327IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• anophthalmia_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0001293IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• transposition of great arteries_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0004110IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• abnormal stomach position or orientation_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0010807IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• abnormal pollex morphology_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0010772IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• absent nodal flow_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0012093IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• kidney cysts_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0003675IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• abnormal orientation of outer hair cell stereociliary bundles_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0004491IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• absent spleen_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0000690IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• abnormal endochondral bone ossification_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0008272IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• abnormal neural tube morphology_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0002151IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• cleft palate_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0000111IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• decreased kidney epithelial cell primary cilium length_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0020383IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• small heart_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0002188IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• preaxial polydactyly_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0009743IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• duplex kidney_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0004017IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• split sternal manubrium_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0012667IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• decreased embryonic cilium number_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0013197IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614
• right aortic arch_Mks1<hlb614>/Mks1<hlb614>
  http://metadb.riken.jp/0004158IC3HC57BL6Mks1hlb614Mks1hlb614Mks1hlb614