Yi Chun. Chen, et.al., Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model., Human molecular genetics, 2012, 21

http://rdf.ncbi.nlm.nih.gov/pubmed/22002997

Yi Chun. Chen, et.al., Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model., Human molecular genetics, 2012, 21

pubmed

表現型アノテーション

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

• blepharoptosis_Atxn7<tm1Hzo>/Atxn7<+>
  http://metadb.riken.jp/0001344I129S7SvEvBrdAtxn7tm1HzoAtxn7Atxn7Atxn7tm1Hzo
• abnormal cerebellum vermis morphology_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>
  http://metadb.riken.jp/0000864I129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoAtxn7tm1Hzo
• ataxia_Atxn7<tm1Hzo>/Atxn7<+>
  http://metadb.riken.jp/0001393I129S7SvEvBrdAtxn7tm1HzoAtxn7Atxn7Atxn7tm1Hzo
• abnormal gait_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>
  http://metadb.riken.jp/0001406I129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoAtxn7tm1Hzo
• premature death_Atxn7<tm1Hzo>/Atxn7<+>
  http://metadb.riken.jp/0002083I129S7SvEvBrdAtxn7tm1HzoAtxn7Atxn7Atxn7tm1Hzo
• weight loss_Atxn7<tm1Hzo>/Atxn7<+>
  http://metadb.riken.jp/0001263I129S7SvEvBrdAtxn7tm1HzoAtxn7Atxn7Atxn7tm1Hzo
• Purkinje cell degeneration_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>,Kat2a<tm3.1Roth>/Kat2a<+>
  http://metadb.riken.jp/0000876I129129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoKat2atm31RothKat2aKat2atm31RothKat2aAtxn7tm1Hzo
• thin retinal outer nuclear layer_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>,Kat2a<tm3.1Roth>/Kat2a<+>
  http://metadb.riken.jp/0008515I129129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoKat2atm31RothKat2aKat2atm31RothKat2aAtxn7tm1Hzo
• premature death_Atxn7<tm1Hzo>/Atxn7<+>,Kat2a<tm3Roth>/Kat2a<+>
  http://metadb.riken.jp/0002083I129129S7SvEvBrdAtxn7tm1HzoAtxn7Kat2atm3RothKat2aKat2aAtxn7tm1HzoAtxn7Kat2atm3Roth
• decreased Purkinje cell number_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>,Kat2a<tm3.1Roth>/Kat2a<+>
  http://metadb.riken.jp/0000880I129129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoKat2atm31RothKat2aKat2atm31RothKat2aAtxn7tm1Hzo
• abnormal gait_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>,Kat2a<tm3.1Roth>/Kat2a<+>
  http://metadb.riken.jp/0001406I129129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoKat2atm31RothKat2aKat2atm31RothKat2aAtxn7tm1Hzo
• abnormal Purkinje cell morphology_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>,Kat2a<tm3.1Roth>/Kat2a<+>
  http://metadb.riken.jp/0000877I129129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoKat2atm31RothKat2aKat2atm31RothKat2aAtxn7tm1Hzo
• abnormal cerebellum vermis morphology_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>,Kat2a<tm3.1Roth>/Kat2a<+>
  http://metadb.riken.jp/0000864I129129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoKat2atm31RothKat2aKat2atm31RothKat2aAtxn7tm1Hzo
• premature death_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>,Kat2a<tm3.1Roth>/Kat2a<+>
  http://metadb.riken.jp/0002083I129129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoKat2atm31RothKat2aKat2atm31RothKat2aAtxn7tm1Hzo
• photoreceptor outer segment degeneration_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>,Kat2a<tm3.1Roth>/Kat2a<+>
  http://metadb.riken.jp/0008584I129129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoKat2atm31RothKat2aKat2atm31RothKat2aAtxn7tm1Hzo
• abnormal gait_Kat2a<tm3.1Roth>/Kat2a<tm3.2Roth>,Tg(Pcp2-cre)2Mpin/0
  http://metadb.riken.jp/0001406I129Kat2atm31RothKat2atm32RothTgPcp2cre2Mpin0TgPcp2cre2MpinKat2atm32RothKat2atm31Roth
• abnormal cerebellum vermis morphology_Kat2a<tm3.1Roth>/Kat2a<tm3.2Roth>,Tg(Pcp2-cre)2Mpin/0
  http://metadb.riken.jp/0000864I129Kat2atm31RothKat2atm32RothTgPcp2cre2Mpin0TgPcp2cre2MpinKat2atm32RothKat2atm31Roth
• retinal photoreceptor degeneration_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>,Kat2a<tm3.1Roth>/Kat2a<+>
  http://metadb.riken.jp/0008450I129129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoKat2atm31RothKat2aKat2atm31RothKat2aAtxn7tm1Hzo
• retinal photoreceptor degeneration_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>
  http://metadb.riken.jp/0008450I129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoAtxn7tm1Hzo
• kyphosis_Atxn7<tm1Hzo>/Atxn7<+>
  http://metadb.riken.jp/0000160I129S7SvEvBrdAtxn7tm1HzoAtxn7Atxn7Atxn7tm1Hzo
• abnormal Purkinje cell morphology_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>
  http://metadb.riken.jp/0000877I129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoAtxn7tm1Hzo
• ataxia_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>,Kat2a<tm3.1Roth>/Kat2a<+>
  http://metadb.riken.jp/0001393I129129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoKat2atm31RothKat2aKat2atm31RothKat2aAtxn7tm1Hzo
• tremors_Atxn7<tm1Hzo>/Atxn7<+>
  http://metadb.riken.jp/0000745I129S7SvEvBrdAtxn7tm1HzoAtxn7Atxn7Atxn7tm1Hzo
• retinal outer nuclear layer degeneration_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>,Kat2a<tm3.1Roth>/Kat2a<+>
  http://metadb.riken.jp/0008518I129129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoKat2atm31RothKat2aKat2atm31RothKat2aAtxn7tm1Hzo
• thin retinal inner nuclear layer_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>,Kat2a<tm3.1Roth>/Kat2a<+>
  http://metadb.riken.jp/0008511I129129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoKat2atm31RothKat2aKat2atm31RothKat2aAtxn7tm1Hzo
• ataxia_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>
  http://metadb.riken.jp/0001393I129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoAtxn7tm1Hzo
• limb grasping_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>,Kat2a<tm3.1Roth>/Kat2a<+>
  http://metadb.riken.jp/0001513I129129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoKat2atm31RothKat2aKat2atm31RothKat2aAtxn7tm1Hzo
• premature death_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>
  http://metadb.riken.jp/0002083I129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoAtxn7tm1Hzo
• neonatal lethality, complete penetrance_Atxn7<tm1Hzo>/Atxn7<+>,Kat2a<tm3Roth>/Kat2a<tm3Roth>
  http://metadb.riken.jp/0011087I129129S7SvEvBrdAtxn7tm1HzoAtxn7Kat2atm3RothKat2atm3RothKat2atm3RothAtxn7tm1HzoAtxn7
• abnormal gait_Atxn7<tm1Hzo>/Atxn7<+>,Kat2a<tm3.1Roth>/Kat2a<+>
  http://metadb.riken.jp/0001406I129129S7SvEvBrdAtxn7tm1HzoAtxn7Kat2atm31RothKat2aAtxn7tm1HzoAtxn7Kat2atm31RothKat2a
• photoreceptor inner segment degeneration_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>,Kat2a<tm3.1Roth>/Kat2a<+>
  http://metadb.riken.jp/0008580I129129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoKat2atm31RothKat2aKat2atm31RothKat2aAtxn7tm1Hzo
• retinal outer nuclear layer degeneration_Atxn7<tm1Hzo>/Atxn7<tm1Hzo>
  http://metadb.riken.jp/0008518I129S7SvEvBrdAtxn7tm1HzoAtxn7tm1HzoAtxn7tm1Hzo
• premature death_Atxn7<tm1Hzo>/Atxn7<+>,Kat2a<tm3.1Roth>/Kat2a<+>
  http://metadb.riken.jp/0002083I129129S7SvEvBrdAtxn7tm1HzoAtxn7Kat2atm31RothKat2aAtxn7tm1HzoAtxn7Kat2atm31RothKat2a
• abnormal motor coordination/ balance_Atxn7<tm1Hzo>/Atxn7<+>
  http://metadb.riken.jp/0001516I129S7SvEvBrdAtxn7tm1HzoAtxn7Atxn7Atxn7tm1Hzo