Jelena S. Arnold, et.al., Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations., Development (Cambridge, England), 2006, 133

http://rdf.ncbi.nlm.nih.gov/pubmed/16452092

Jelena S. Arnold, et.al., Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations., Development (Cambridge, England), 2006, 133

pubmed

allele

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

• Tbx1<tm2.1Bem>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3619149
• Tbx1<tm2.2Bem>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3619150
• Tbx1<tm2Bem>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3619531

表現型アノテーション

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

• absent middle ear ossicles_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0000040I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• short mandible_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0000088I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• abnormal interventricular septum morphology_Tbx1<tm2.2Bem>/Tbx1<tm2.2Bem>
  http://metadb.riken.jp/0000281I129SvC57BL6JSJLSwissWebsterTbx1tm22BemTbx1tm22BemTbx1tm22Bem
• absent parathyroid glands_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0000680I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• athymia_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0000705I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• abnormal skeletal muscle morphology_Tbx1<tm2.2Bem>/Tbx1<tm2.2Bem>
  http://metadb.riken.jp/0000759I129SvC57BL6JSJLSwissWebsterTbx1tm22BemTbx1tm22BemTbx1tm22Bem
他20件を見る
• skin edema_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0001786I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• abnormal craniofacial bone morphology_Tbx1<tm2Bem>/Tbx1<tm2Bem>
  http://metadb.riken.jp/0002116I129SvC57BL6JSJLTbx1tm2BemTbx1tm2BemTbx1tm2Bem
• persistent truncus arteriosis_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0002633I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• small thyroid gland_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0002951I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• absent tympanic ring_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0003138I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• abnormal aortic arch morphology_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0004113I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• retroesophageal right subclavian artery_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0004160I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• absent masseter muscle_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0004236I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• absent pterygoid muscle_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0004238I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• temporal bone hypoplasia_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0004424I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• pharynx hypoplasia_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0004555I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• fusion of basioccipital and basisphenoid bone_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0004572I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• absent zygomatic arch_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0004900I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• absent outer ear_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0005579I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• abnormal cardiac outflow tract development_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0006126I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• cleft secondary palate_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0009890I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• hyoid bone hypoplasia_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0009899I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• ventricular septal defect_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0010402I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• neonatal lethality, complete penetrance_Tbx1<tm2.2Bem>/Tbx1<tm2.2Bem>
  http://metadb.riken.jp/0011087I129SvC57BL6JSJLSwissWebsterTbx1tm22BemTbx1tm22BemTbx1tm22Bem
• neonatal lethality, complete penetrance_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0011087I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1

class

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

• Tbx1<tm2.1Bem>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3619149
• Tbx1<tm2.2Bem>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3619150
• Tbx1<tm2Bem>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3619531