Maria. Segura-Puimedon, et.al., Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder., Human molecular genetics, 2014, 23

http://rdf.ncbi.nlm.nih.gov/pubmed/25027326

Maria. Segura-Puimedon, et.al., Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder., Human molecular genetics, 2014, 23

pubmed

allele

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

• Del(5Gtf2i-Fkbp6)1Vcam
  http://metadb.riken.jp/db/mgi_rdf/MGI:5555958
• Fkbp6<tm1Vcam>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5662261

表現型アノテーション

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

• abnormal motor capabilities/coordination/movement_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0002066B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• cardiac hypertrophy_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0001625B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• abnormal amygdala morphology_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0000818B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• increased mean systemic arterial blood pressure_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0004875B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• abnormal learning/memory/conditioning_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0002063B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• impaired swimming_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0001522B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• embryonic lethality prior to organogenesis_Del(5Gtf2i-Fkbp6)1Vcam/Del(5Gtf2i-Fkbp6)1Vcam
  http://metadb.riken.jp/0013292B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• impaired coordination_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0001405B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• abnormal habituation_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0011617B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• increased aorta wall thickness_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0010996B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• altered tumor susceptibility_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0002166B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• decreased anxiety-related response_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0001364B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• small mandible_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0004592B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• thin hippocampus stratum oriens_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0012446B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• abnormal aorta wall morphology_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0009866B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• abnormal dentate gyrus morphology_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0000812B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• hepatic steatosis_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0002628B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• increased startle reflex_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0001488B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• decreased body weight_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0001262B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• abnormal hippocampus pyramidal cell layer_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0008284B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• abnormal dendritic spine morphology_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0009936B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• abnormal social investigation_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0001360B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• decreased brain weight_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0002175B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• abnormal dendrite morphology_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0008143B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• abnormal physical strength_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0004262B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• decreased fear-related response_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0003460B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam
• abnormal hippocampus morphology_Del(5Gtf2i-Fkbp6)1Vcam/+
  http://metadb.riken.jp/0000807B6129Del5Gtf2iFkbp61VcamJ204278Del5Gtf2iFkbp61VcamDel5Gtf2iFkbp61Vcam

class

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

• Del(5Gtf2i-Fkbp6)1Vcam
  http://metadb.riken.jp/db/mgi_rdf/MGI:5555958
• Fkbp6<tm1Vcam>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5662261