Elena. Zvaritch, et.al., An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line., Proceedings of the National Academy of Sciences of the United States of America, 2007, 104

http://rdf.ncbi.nlm.nih.gov/pubmed/18003898

Elena. Zvaritch, et.al., An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line., Proceedings of the National Academy of Sciences of the United States of America, 2007, 104

pubmed

allele

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

• Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4418317

表現型アノテーション

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

• abnormal muscle physiology_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0002106I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• delayed bone ossification_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0000060I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• abnormal thoracic cage shape_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0010099I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• abnormal posture_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0001504I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• tight skin_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0001198I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• abnormal interventricular groove morphology_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0004032I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• kyphosis_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0000160I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• skeletal muscle degeneration_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0009415I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• skin edema_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0001786I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• decreased birth weight_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0009674I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• decreased skeletal muscle mass_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0004819I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• unresponsive to tactile stimuli_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0001491I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• fetal growth retardation_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0004201I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• cyanosis_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0001575I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• ostium secundum atrial septal defect_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0010405I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• paralysis_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0000753I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• ostium primum atrial septal defect_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0010404I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• increased brown adipose tissue amount_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0000005I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• abnormal dermal layer morphology_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0001243I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• impaired skeletal muscle contractility_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0002841I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• translucent skin_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0001201I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• decreased birth body size_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0009703I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• abnormal coronary artery morphology_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0004111I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• domed cranium_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0000440I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• delayed heart development_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0012082I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• abnormal skin condition_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0001191I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• abnormal muscle development_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0000733I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• neonatal lethality, complete penetrance_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0011087I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• underdeveloped hair follicles_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0000382I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• abnormal diaphragm morphology_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0002279I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm
• cleft secondary palate_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/0009890I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm

class

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

• Ryr1<tm1.1Dhm>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4418317