J. Dixon, et.al., Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome., Human molecular genetics, 2000, 9

http://rdf.ncbi.nlm.nih.gov/pubmed/10888597

J. Dixon, et.al., Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome., Human molecular genetics, 2000, 9

pubmed

allele

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

• Tcof1<tm1Mjd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2386185

表現型アノテーション

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

• abnormal maxillary prominence morphology_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0010940I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal outer ear morphology_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0002177I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• acrania_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0003104I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• exencephaly_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0000914I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal cranial ganglia morphology_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0001081I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• absent interparietal bone_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0004383I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• small otic vesicle_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0004310I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• failure of palatal shelf elevation_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0009886I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• small trigeminal ganglion_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0001093I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal Rathke's pouch development_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0013351I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal tympanic ring morphology_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0000030I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal zygomatic arch morphology_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0004469I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• open neural tube_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0000929I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal cranium morphology_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0000438I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• absent parietal bone_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0004419I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal neural fold formation_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0004837I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal midbrain development_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0003864I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal middle ear ossicle morphology_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0005105I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• absent frontal bone_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0004376I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• small first pharyngeal arch_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0006341I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• embryonic growth retardation_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0003984I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• neonatal lethality, complete penetrance_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0011087I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• anophthalmia_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0001293I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• lowered ear position_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0000024I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal neurocranium morphology_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0000074I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• delayed neural tube closure_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0002621I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• delayed embryo turning_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0004188I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• increased neural tube apoptosis_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0012505I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• retrognathia_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0004282I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal trigeminal nerve morphology_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0001065I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal craniofacial morphology_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0000428I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal upper lip morphology_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0012523I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal frontonasal prominence morphology_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0009901I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal craniofacial bone morphology_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0002116I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal forebrain development_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0003232I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal craniofacial development_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0003935I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal nasal pit morphology_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0006306I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• mandible hypoplasia_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0000460I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• cup-shaped ears_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0003735I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal nasal capsule morphology_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0004726I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• abnormal forebrain morphology_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0000783I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• respiratory failure_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0001953I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• decreased tympanic ring size_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0006020I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• small mandible_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0004592I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• short mandible_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0000088I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• disorganized dorsal root ganglion_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0000962I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• absent optic vesicle_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0006294I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd
• absent glossopharyngeal nerve_Tcof1<tm1Mjd>/Tcof1<+>
  http://metadb.riken.jp/0004570I129S1Sv129X1SvJC57BL6Tcof1tm1MjdTcof1Tcof1Tcof1tm1Mjd

class

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

• Tcof1<tm1Mjd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2386185

トランスクリプトームデータ

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

• CD00416
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD00416