Guoyan. Liang, et.al., Endoplasmic reticulum stress-unfolding protein response-apoptosis cascade causes chondrodysplasia in a col2a1 p.Gly1170Ser mutated mouse model., PloS one, 2014, 9

http://rdf.ncbi.nlm.nih.gov/pubmed/24475193

Guoyan. Liang, et.al., Endoplasmic reticulum stress-unfolding protein response-apoptosis cascade causes chondrodysplasia in a col2a1 p.Gly1170Ser mutated mouse model., PloS one, 2014, 9

pubmed

allele

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

• Col2a1<tm1Dshh>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5620959

表現型アノテーション

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

• short snout_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0000445I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• cleft palate_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0000111I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• abnormal craniofacial bone morphology_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0002116I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• neonatal lethality, complete penetrance_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0011087I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• abnormal chondrocyte physiology_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0009780I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• abnormal pelvic girdle bone morphology_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0004509I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• short femur_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0003109I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• decreased fetal size_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0004200I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• disorganized long bone epiphyseal plate_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0006397I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• abnormal thoracic cage morphology_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0004624I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• decreased width of hypertrophic chondrocyte zone_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0003409I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• distended abdomen_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0001270I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• abnormal cranium morphology_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0000438I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• abnormal vertebrae development_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0005225I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• abnormal phalanx morphology_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0005306I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• respiratory distress_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0001954I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• decreased length of long bones_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0004686I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• abnormal chest morphology_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0004134I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• abnormal chondrocyte morphology_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0000166I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• abnormal trabecular bone morphology_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0000130I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• short humerus_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0004351I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• chondrodystrophy_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0002657I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• decreased body length_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0001258I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• abnormal scapula morphology_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0000149I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• cyanosis_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0001575I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• increased diameter of long bones_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0008151I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• short limbs_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0000547I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• no abnormal phenotype detected_Col2a1<tm1Dshh>/Col2a1<+>
  http://metadb.riken.jp/0002169I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1Col2a1tm1DshhCol2a1
• decreased body size_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0001265I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• abnormal cartilage development_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0000164I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• abnormal endochondral bone ossification_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0008272I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• abnormal long bone epiphyseal plate proliferative zone_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0003662I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• abnormal skeleton development_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0002113I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh
• delayed endochondral bone ossification_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>
  http://metadb.riken.jp/0003419I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh

class

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

• Col2a1<tm1Dshh>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5620959