Stéphanie. Pannier, et.al., Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia., Biochimica et biophysica acta, 2009, 1792

http://rdf.ncbi.nlm.nih.gov/pubmed/19073250

Stéphanie. Pannier, et.al., Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia., Biochimica et biophysica acta, 2009, 1792

pubmed

allele

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

• Fgfr3<tm1Llm>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3840003
• Fgfr3<tm2Llm>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5426422

class

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

• Fgfr3<tm1Llm>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3840003
• Fgfr3<tm2Llm>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5426422

表現型アノテーション

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

• abnormal malleus morphology_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0000029I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• abnormal cochlea morphology_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0000031I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• abnormal organ of Corti morphology_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0000042I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• decreased chondrocyte number_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0000167I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• megacephaly_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0000434I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• abnormal cranium morphology_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0000438I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
他24件を見る
• domed cranium_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0000440I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• decreased body length_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0001258I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• deafness_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0001967I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• premature death_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0002083I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• short femur_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0003109I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• abnormal Deiters cell morphology_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0004302I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• bowed tibia_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0004358I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• bowed ulna_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0004361I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• bowed fibula_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0004372I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• bowed radius_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0004374I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• abnormal cochlear outer hair cell morphology_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0004399I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• small caudal vertebrae_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0004652I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• short ribs_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0004672I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• decreased length of long bones_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0004686I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• abnormal middle ear ossicle morphology_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0005105I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• abnormal incus morphology_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0005106I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• abnormal stapes morphology_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0005107I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• abnormal temporal bone morphology_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0005272I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• abnormal skeleton morphology_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0005508I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• abnormal epiphyseal plate morphology_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0006395I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• decreased cranium height_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0008525I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• prognathia_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0010208I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• abnormal foramen magnum morphology_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0010941I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3
• increased or absent threshold for auditory brainstem response_Fgfr3<tm1Llm>/Fgfr3<+>
  http://metadb.riken.jp/0011967I129S2SvPasC57BL6JFgfr3tm1LlmFgfr3Fgfr3tm1LlmFgfr3