Tatsuya. Furuichi, et.al., ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type., Mammalian genome : official journal of the International Mammalian Genome Society, 2011, 22

http://rdf.ncbi.nlm.nih.gov/pubmed/21538020

Tatsuya. Furuichi, et.al., ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type., Mammalian genome : official journal of the International Mammalian Genome Society, 2011, 22

pubmed

表現型アノテーション

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

• abnormal chondrocyte morphology_Col2a1<Rgsc856>/Col2a1<+>
  http://metadb.riken.jp/0000166IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Col2a1Col2a1Rgsc856
• abnormal long bone epiphyseal plate proliferative zone_Col2a1<Rgsc856>/Col2a1<Rgsc856>
  http://metadb.riken.jp/0003662IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Rgsc856Col2a1Rgsc856
• platyspondylia_Col2a1<Rgsc856>/Col2a1<Rgsc856>
  http://metadb.riken.jp/0011175IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Rgsc856Col2a1Rgsc856
• short femur_Col2a1<Rgsc856>/Col2a1<+>
  http://metadb.riken.jp/0003109IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Col2a1Col2a1Rgsc856
• abnormal chondrocyte physiology_Col2a1<Rgsc856>/Col2a1<+>
  http://metadb.riken.jp/0009780IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Col2a1Col2a1Rgsc856
• decreased fetal size_Col2a1<Rgsc856>/Col2a1<Rgsc856>
  http://metadb.riken.jp/0004200IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Rgsc856Col2a1Rgsc856
• brachydactyly_Col2a1<Rgsc856>/Col2a1<Rgsc856>
  http://metadb.riken.jp/0002544IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Rgsc856Col2a1Rgsc856
• decreased fetal size_Col2a1<Rgsc856>/Col2a1<+>
  http://metadb.riken.jp/0004200IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Col2a1Col2a1Rgsc856
• short limbs_Col2a1<Rgsc856>/Col2a1<Rgsc856>
  http://metadb.riken.jp/0000547IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Rgsc856Col2a1Rgsc856
• vertebral body hypoplasia_Col2a1<Rgsc856>/Col2a1<+>
  http://metadb.riken.jp/0004667IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Col2a1Col2a1Rgsc856
• abnormal epiphyseal plate morphology_Col2a1<Rgsc856>/Col2a1<+>
  http://metadb.riken.jp/0006395IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Col2a1Col2a1Rgsc856
• perinatal lethality, complete penetrance_Col2a1<Rgsc856>/Col2a1<Rgsc856>
  http://metadb.riken.jp/0011089IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Rgsc856Col2a1Rgsc856
• short snout_Col2a1<Rgsc856>/Col2a1<Rgsc856>
  http://metadb.riken.jp/0000445IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Rgsc856Col2a1Rgsc856
• abnormal chondrocyte morphology_Col2a1<Rgsc856>/Col2a1<Rgsc856>
  http://metadb.riken.jp/0000166IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Rgsc856Col2a1Rgsc856
• abnormal epiphyseal plate morphology_Col2a1<Rgsc856>/Col2a1<Rgsc856>
  http://metadb.riken.jp/0006395IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Rgsc856Col2a1Rgsc856
• micromelia_Col2a1<Rgsc856>/Col2a1<+>
  http://metadb.riken.jp/0008736IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Col2a1Col2a1Rgsc856
• abnormal vertebrae morphology_Col2a1<Rgsc856>/Col2a1<Rgsc856>
  http://metadb.riken.jp/0000137IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Rgsc856Col2a1Rgsc856
• abnormal skeleton morphology_Col2a1<Rgsc856>/Col2a1<Rgsc856>
  http://metadb.riken.jp/0005508IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Rgsc856Col2a1Rgsc856
• abnormal pelvic girdle bone morphology_Col2a1<Rgsc856>/Col2a1<Rgsc856>
  http://metadb.riken.jp/0004509IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Rgsc856Col2a1Rgsc856
• abnormal long bone epiphyseal plate proliferative zone_Col2a1<Rgsc856>/Col2a1<+>
  http://metadb.riken.jp/0003662IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Col2a1Col2a1Rgsc856
• abnormal chondrocyte physiology_Col2a1<Rgsc856>/Col2a1<Rgsc856>
  http://metadb.riken.jp/0009780IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Rgsc856Col2a1Rgsc856

表現型アノテーション

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

• skeleton phenotype in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019442
• abnormal pelvic girdle bone morphology in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019433
• short limbs in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019444
• decreased fetal size in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019441
• platyspondylia in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019435
• abnormal skeleton morphology in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019432
• abnormal hindlimb morphology in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019451
• short radius in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019446
• abnormal epiphyseal plate morphology in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019437
• brachydactyly in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019443
• short femur in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019448
• abnormal vertebrae morphology in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019434
• abnormal forelimb morphology in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019450
• short humerus in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019445
• abnormal chondrocyte physiology in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019439
• abnormal chondrocyte morphology in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019436
• micromelia in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019452
• short ulna in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019447
• abnormal long bone epiphyseal plate proliferative zone in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019438
• vertebral body hypoplasia in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019449
• short snout in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019440
• perinatal lethality, complete penetrance in RBRC-GSC0164
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1019431