L. Chen, et.al., Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis., The Journal of clinical investigation, 1999, 104

http://rdf.ncbi.nlm.nih.gov/pubmed/10587515

L. Chen, et.al., Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis., The Journal of clinical investigation, 1999, 104

pubmed

allele

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

• Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2135673
• Fgfr3<tm3Cxd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2135670

表現型アノテーション

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

• abnormal long bone epiphyseal plate morphology_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0003055I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• decreased cranium height_Fgfr3<tm3.1Cxd>/Fgfr3<+>
  http://metadb.riken.jp/0008525I129S6SvEvTacFgfr3tm31CxdFgfr3Fgfr3Fgfr3tm31Cxd
• abnormal chondrocyte morphology_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0000166I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• disorganized long bone epiphyseal plate_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0006397I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• disproportionate dwarf_Fgfr3<tm3.1Cxd>/Fgfr3<+>
  http://metadb.riken.jp/0002427I129S6SvEvTacFgfr3tm31CxdFgfr3Fgfr3Fgfr3tm31Cxd
• abnormal bone ossification_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0008271I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• abnormal long bone epiphyseal plate proliferative zone_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0003662I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• short tail_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0000592I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• abnormal synchondrosis_Fgfr3<tm3.1Cxd>/Fgfr3<+>
  http://metadb.riken.jp/0004053I129S6SvEvTacFgfr3tm31CxdFgfr3Fgfr3Fgfr3tm31Cxd
• abnormal behavior_Fgfr3<tm3Cxd>/Fgfr3<tm3Cxd>
  http://metadb.riken.jp/0004924I129S6SvEvTacFgfr3tm3CxdFgfr3tm3CxdFgfr3tm3Cxd
• domed cranium_Fgfr3<tm3.1Cxd>/Fgfr3<+>
  http://metadb.riken.jp/0000440I129S6SvEvTacFgfr3tm31CxdFgfr3Fgfr3Fgfr3tm31Cxd
• abnormal long bone morphology_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0003723I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• small vertebrae_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0004610I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• delayed endochondral bone ossification_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0003419I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• megacephaly_Fgfr3<tm3.1Cxd>/Fgfr3<+>
  http://metadb.riken.jp/0000434I129S6SvEvTacFgfr3tm31CxdFgfr3Fgfr3Fgfr3tm31Cxd
• short humerus_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0004351I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• megacephaly_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0000434I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• increased cranium width_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0000441I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• abnormal osteoclast physiology_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0001541I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• increased cranium width_Fgfr3<tm3.1Cxd>/Fgfr3<+>
  http://metadb.riken.jp/0000441I129S6SvEvTacFgfr3tm31CxdFgfr3Fgfr3Fgfr3tm31Cxd
• lethality at weaning, complete penetrance_Fgfr3<tm3Cxd>/Fgfr3<tm3Cxd>
  http://metadb.riken.jp/0011083I129S6SvEvTacFgfr3tm3CxdFgfr3tm3CxdFgfr3tm3Cxd
• abnormal osteoblast differentiation_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0008395I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• abnormal long bone epiphyseal plate morphology_Fgfr3<tm3.1Cxd>/Fgfr3<+>
  http://metadb.riken.jp/0003055I129S6SvEvTacFgfr3tm31CxdFgfr3Fgfr3Fgfr3tm31Cxd
• domed cranium_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0000440I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• premature bone ossification_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0003416I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• abnormal cranium morphology_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0000438I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• abnormal trabecular bone morphology_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0000130I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• abnormal synchondrosis_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0004053I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• short femur_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0003109I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• short tail_Fgfr3<tm3.1Cxd>/Fgfr3<+>
  http://metadb.riken.jp/0000592I129S6SvEvTacFgfr3tm31CxdFgfr3Fgfr3Fgfr3tm31Cxd
• abnormal basicranium morphology_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0010029I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• delayed bone ossification_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0000060I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• abnormal skeleton morphology_Fgfr3<tm3Cxd>/Fgfr3<tm3Cxd>
  http://metadb.riken.jp/0005508I129S6SvEvTacFgfr3tm3CxdFgfr3tm3CxdFgfr3tm3Cxd
• disproportionate dwarf_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0002427I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• abnormal cranium morphology_Fgfr3<tm3.1Cxd>/Fgfr3<+>
  http://metadb.riken.jp/0000438I129S6SvEvTacFgfr3tm31CxdFgfr3Fgfr3Fgfr3tm31Cxd
• abnormal postnatal growth/weight/body size_Fgfr3<tm3Cxd>/Fgfr3<tm3Cxd>
  http://metadb.riken.jp/0002089I129S6SvEvTacFgfr3tm3CxdFgfr3tm3CxdFgfr3tm3Cxd
• decreased cranium height_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0008525I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• abnormal long bone metaphysis morphology_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0000133I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• decreased width of hypertrophic chondrocyte zone_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0003409I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• decreased bone mineral density_Fgfr3<tm3.1Cxd>/Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/0000063I129S6SvEvTacFgfr3tm31CxdFgfr3tm31CxdFgfr3tm31Cxd
• abnormal breathing pattern_Fgfr3<tm3Cxd>/Fgfr3<tm3Cxd>
  http://metadb.riken.jp/0001951I129S6SvEvTacFgfr3tm3CxdFgfr3tm3CxdFgfr3tm3Cxd

class

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

• Fgfr3<tm3.1Cxd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2135673
• Fgfr3<tm3Cxd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2135670