Jelena S. Arnold, et.al., Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients., Human molecular genetics, 2006, 15

http://rdf.ncbi.nlm.nih.gov/pubmed/16600992

Jelena S. Arnold, et.al., Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients., Human molecular genetics, 2006, 15

pubmed

表現型アノテーション

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

• inner ear hypoplasia_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Tg(Pax2-cre)1Akg/0
  http://metadb.riken.jp/0006286I129SvC57BL6SJLTbx1tm21BemTbx1tm22BemTgPax2cre1Akg0TgPax2cre1AkgTbx1tm21BemTbx1tm22Bem
• abnormal endolymphatic duct morphology_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0006011I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• absent tympanic ring_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0003138I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• otic capsule hypoplasia_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0006289I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• abnormal pharyngeal pouch morphology_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0006031I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• otic vesicle hypoplasia_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Tg(Pax2-cre)1Akg/0
  http://metadb.riken.jp/0004311I129SvC57BL6SJLTbx1tm21BemTbx1tm22BemTgPax2cre1Akg0TgPax2cre1AkgTbx1tm21BemTbx1tm22Bem
• neonatal lethality, complete penetrance_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0011087I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• abnormal middle ear morphology_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0000049I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• abnormal vestibulocochlear ganglion morphology_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Tg(Pax2-cre)1Akg/0
  http://metadb.riken.jp/0003703I129SvC57BL6SJLTbx1tm21BemTbx1tm22BemTgPax2cre1Akg0TgPax2cre1AkgTbx1tm21BemTbx1tm22Bem
• fusion of basioccipital and basisphenoid bone_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0004572I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• abnormal craniofacial bone morphology_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0002116I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• absent semicircular canals_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Tg(Pax2-cre)1Akg/0
  http://metadb.riken.jp/0000036I129SvC57BL6SJLTbx1tm21BemTbx1tm22BemTgPax2cre1Akg0TgPax2cre1AkgTbx1tm21BemTbx1tm22Bem
• absent inner ear vestibule_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0004314I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• otic vesicle hypoplasia_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0004311I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• small otic vesicle_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Tg(Pax2-cre)1Akg/0
  http://metadb.riken.jp/0004310I129SvC57BL6SJLTbx1tm21BemTbx1tm22BemTgPax2cre1Akg0TgPax2cre1AkgTbx1tm21BemTbx1tm22Bem
• cleft secondary palate_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0009890I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• absent inner ear_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Tg(Pax2-cre)1Akg/0
  http://metadb.riken.jp/0006285I129SvC57BL6SJLTbx1tm21BemTbx1tm22BemTgPax2cre1Akg0TgPax2cre1AkgTbx1tm21BemTbx1tm22Bem
• abnormal vestibulocochlear ganglion morphology_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0003703I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• abnormal inner ear morphology_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Tg(Pax2-cre)1Akg/0
  http://metadb.riken.jp/0000026I129SvC57BL6SJLTbx1tm21BemTbx1tm22BemTgPax2cre1Akg0TgPax2cre1AkgTbx1tm21BemTbx1tm22Bem
• absent semicircular canals_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0000036I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• absent inner ear_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0006285I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• absent cochlea_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0003147I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• absent outer ear_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0005579I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• inner ear hypoplasia_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0006286I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• sensorineural hearing loss_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Tg(Pax2-cre)1Akg/0
  http://metadb.riken.jp/0004740I129SvC57BL6SJLTbx1tm21BemTbx1tm22BemTgPax2cre1Akg0TgPax2cre1AkgTbx1tm21BemTbx1tm22Bem
• absent inner ear vestibule_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Tg(Pax2-cre)1Akg/0
  http://metadb.riken.jp/0004314I129SvC57BL6SJLTbx1tm21BemTbx1tm22BemTgPax2cre1Akg0TgPax2cre1AkgTbx1tm21BemTbx1tm22Bem
• increased or absent threshold for auditory brainstem response_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Tg(Pax2-cre)1Akg/0
  http://metadb.riken.jp/0011967I129SvC57BL6SJLTbx1tm21BemTbx1tm22BemTgPax2cre1Akg0TgPax2cre1AkgTbx1tm21BemTbx1tm22Bem
• small otic vesicle_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0004310I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1
• absent cochlea_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Tg(Pax2-cre)1Akg/0
  http://metadb.riken.jp/0003147I129SvC57BL6SJLTbx1tm21BemTbx1tm22BemTgPax2cre1Akg0TgPax2cre1AkgTbx1tm21BemTbx1tm22Bem
• absent middle ear ossicles_Tbx1<tm2.1Bem>/Tbx1<tm2.2Bem>,Foxg1<tm1(cre)Skm>/Foxg1<+>
  http://metadb.riken.jp/0000040I129SvC57BL6SJLSwissWebsterTbx1tm21BemTbx1tm22BemFoxg1tm1creSkmFoxg1Foxg1tm1creSkmTbx1tm21BemTbx1tm22BemFoxg1