Nathalie. Caruso, et.al., Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy., PLoS genetics, 2013, 9

http://rdf.ncbi.nlm.nih.gov/pubmed/23785297

Nathalie. Caruso, et.al., Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy., PLoS genetics, 2013, 9

pubmed

allele

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

• Fat1<tm1Fhel>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5524119
• Fat1<tm1.1Fhel>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5524120
• Fat1<tm1.2Fhel>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5524121

表現型アノテーション

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

• kyphosis_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0000160I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• abnormal muscle development_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0000733I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• abnormal muscle development_Fat1<tm1.2Fhel>/Fat1<tm1.2Fhel>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0000733I129S6SvEvTacBALBcJC57BL6JSJLFat1tm12FhelFat1tm12FhelTgMyl1lacZ1Ibdml0Fat1tm12FhelTgMyl1lacZ1Ibdml
• abnormal muscle development_Fat1<tm1Fhel>/Fat1<tm1Fhel>,Pax3<tm1(cre)Joe>/Pax3<+>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0000733I129S6SvEvTacC57BL6C57BL6JSJLFat1tm1FhelFat1tm1FhelPax3tm1creJoePax3TgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlPax3Fat1tm1FhelPax3tm1creJoe
• abnormal muscle development_Fat1<tm1Fhel>/Fat1<tm1Fhel>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0000733I129S6SvEvTacC57BL6C57BL6JSJLFat1tm1FhelFat1tm1FhelTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1tm1Fhel
• abnormal skeletal muscle morphology_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0000759I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
他32件を見る
• abnormal skeletal muscle morphology_Fat1<tm1.2Fhel>/Fat1<tm1.2Fhel>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0000759I129S6SvEvTacBALBcJC57BL6JSJLFat1tm12FhelFat1tm12FhelTgMyl1lacZ1Ibdml0Fat1tm12FhelTgMyl1lacZ1Ibdml
• abnormal skeletal muscle morphology_Fat1<tm1Fhel>/Fat1<tm1Fhel>,Pax3<tm1(cre)Joe>/Pax3<+>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0000759I129S6SvEvTacC57BL6C57BL6JSJLFat1tm1FhelFat1tm1FhelPax3tm1creJoePax3TgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlPax3Fat1tm1FhelPax3tm1creJoe
• abnormal skeletal muscle morphology_Fat1<tm1Fhel>/Fat1<tm1Fhel>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0000759I129S6SvEvTacC57BL6C57BL6JSJLFat1tm1FhelFat1tm1FhelTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1tm1Fhel
• abnormal neuromuscular synapse morphology_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0001053I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• abnormal neuromuscular synapse morphology_Fat1<tm1.2Fhel>/Fat1<tm1.2Fhel>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0001053I129S6SvEvTacBALBcJC57BL6JSJLFat1tm12FhelFat1tm12FhelTgMyl1lacZ1Ibdml0Fat1tm12FhelTgMyl1lacZ1Ibdml
• weight loss_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0001263I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• microphthalmia_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0001297I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• impaired coordination_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0001405I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• abnormal posture_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0001504I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• premature death_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0002083I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• abnormal retinal vasculature morphology_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0002792I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• retinal detachment_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0003099I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• kidney cysts_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0003675I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• lymphangiectasis_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0004038I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• myositis_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0004510I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• myositis_Fat1<tm1.2Fhel>/Fat1<tm1.2Fhel>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0004510I129S6SvEvTacBALBcJC57BL6JSJLFat1tm12FhelFat1tm12FhelTgMyl1lacZ1Ibdml0Fat1tm12FhelTgMyl1lacZ1Ibdml
• decreased skeletal muscle mass_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0004819I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• abnormal behavior_Fat1<tm1.2Fhel>/Fat1<tm1.2Fhel>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0004924I129S6SvEvTacBALBcJC57BL6JSJLFat1tm12FhelFat1tm12FhelTgMyl1lacZ1Ibdml0Fat1tm12FhelTgMyl1lacZ1Ibdml
• aniridia_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0005261I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• abnormal endolymphatic duct morphology_Fat1<tm1.2Fhel>/Fat1<tm1.2Fhel>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0006011I129S6SvEvTacBALBcJC57BL6JSJLFat1tm12FhelFat1tm12FhelTgMyl1lacZ1Ibdml0Fat1tm12FhelTgMyl1lacZ1Ibdml
• short endolymphatic duct_Fat1<tm1.2Fhel>/Fat1<tm1.2Fhel>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0008065I129S6SvEvTacBALBcJC57BL6JSJLFat1tm12FhelFat1tm12FhelTgMyl1lacZ1Ibdml0Fat1tm12FhelTgMyl1lacZ1Ibdml
• decreased skeletal muscle fiber diameter_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0009402I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• decreased skeletal muscle fiber diameter_Fat1<tm1.2Fhel>/Fat1<tm1.2Fhel>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0009402I129S6SvEvTacBALBcJC57BL6JSJLFat1tm12FhelFat1tm12FhelTgMyl1lacZ1Ibdml0Fat1tm12FhelTgMyl1lacZ1Ibdml
• skeletal muscle fiber necrosis_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0009414I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• skeletal muscle fiber necrosis_Fat1<tm1.2Fhel>/Fat1<tm1.2Fhel>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0009414I129S6SvEvTacBALBcJC57BL6JSJLFat1tm12FhelFat1tm12FhelTgMyl1lacZ1Ibdml0Fat1tm12FhelTgMyl1lacZ1Ibdml
• skeletal muscle atrophy_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0009417I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• ectopic skeletal muscle_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0010056I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• ectopic skeletal muscle_Fat1<tm1.2Fhel>/Fat1<tm1.2Fhel>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0010056I129S6SvEvTacBALBcJC57BL6JSJLFat1tm12FhelFat1tm12FhelTgMyl1lacZ1Ibdml0Fat1tm12FhelTgMyl1lacZ1Ibdml
• ectopic skeletal muscle_Fat1<tm1Fhel>/Fat1<tm1Fhel>,Pax3<tm1(cre)Joe>/Pax3<+>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0010056I129S6SvEvTacC57BL6C57BL6JSJLFat1tm1FhelFat1tm1FhelPax3tm1creJoePax3TgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlPax3Fat1tm1FhelPax3tm1creJoe
• ectopic skeletal muscle_Fat1<tm1Fhel>/Fat1<tm1Fhel>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0010056I129S6SvEvTacC57BL6C57BL6JSJLFat1tm1FhelFat1tm1FhelTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1tm1Fhel
• retina microaneurysm_Fat1<Gt(KST249)Byg>/Fat1<Gt(KST249)Byg>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0010452I129P2OlaHsdFat1GtKST249BygFat1GtKST249BygTgMyl1lacZ1Ibdml0TgMyl1lacZ1IbdmlFat1GtKST249Byg
• neonatal lethality, incomplete penetrance_Fat1<tm1.2Fhel>/Fat1<tm1.2Fhel>,Tg(Myl1-lacZ)1Ibdml/0
  http://metadb.riken.jp/0011088I129S6SvEvTacBALBcJC57BL6JSJLFat1tm12FhelFat1tm12FhelTgMyl1lacZ1Ibdml0Fat1tm12FhelTgMyl1lacZ1Ibdml

class

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

• Fat1<tm1Fhel>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5524119
• Fat1<tm1.1Fhel>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5524120
• Fat1<tm1.2Fhel>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5524121