Kerry A. Miller, et.al., Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome., PLoS genetics, 2013, 9

http://rdf.ncbi.nlm.nih.gov/pubmed/24009529

Kerry A. Miller, et.al., Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome., PLoS genetics, 2013, 9

pubmed

表現型アノテーション

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

• absent alisphenoid bone_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0004458IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• maxilla hypoplasia_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0000457IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal tricuspid valve morphology_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0002624IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal craniofacial morphology_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0000428IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• hydrops fetalis_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0002192IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• prenatal growth retardation_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0010865IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• rib bifurcation_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0000153IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• polydactyly_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0000562IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal digit morphology_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0002110IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal rib morphology_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0000150IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal lung morphology_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0001175IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal craniofacial bone morphology_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0002116IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• lethality throughout fetal growth and development, complete penetrance_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0011099IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• curly tail_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0003051IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• omphalocele_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0003052IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• oligodactyly_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0000565IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal hindlimb bud morphology_Ift140<tm1b(KOMP)Wtsi>/Ift140<tm1b(KOMP)Wtsi>
  http://metadb.riken.jp/0013167IC57BL6NIft140tm1bKOMPWtsiIft140tm1bKOMPWtsiIft140tm1bKOMPWtsi
• exencephaly_Ift140<tm1b(KOMP)Wtsi>/Ift140<tm1b(KOMP)Wtsi>
  http://metadb.riken.jp/0000914IC57BL6NIft140tm1bKOMPWtsiIft140tm1bKOMPWtsiIft140tm1bKOMPWtsi
• abnormal neural tube closure_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0003720IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal interventricular septum morphology_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0000281IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal mouth morphology_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0000452IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• embryonic lethality during organogenesis, complete penetrance_Ift140<tm1b(KOMP)Wtsi>/Ift140<tm1b(KOMP)Wtsi>
  http://metadb.riken.jp/0011098IC57BL6NIft140tm1bKOMPWtsiIft140tm1bKOMPWtsiIft140tm1bKOMPWtsi
• palatal shelf hypoplasia_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0009883IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal maxilla morphology_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0000455IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal primary cilium morphology_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0013203IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• exostosis_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0009877IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal neural tube morphology_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0002151IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal exoccipital bone morphology_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0000080IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal atrioventricular valve morphology_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0002745IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• premaxilla hypoplasia_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0004871IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal limb bud morphology_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0005650IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• heart hemorrhage_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0009698IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal mouth morphology_Ift140<tm1b(KOMP)Wtsi>/Ift140<tm1b(KOMP)Wtsi>
  http://metadb.riken.jp/0000452IC57BL6NIft140tm1bKOMPWtsiIft140tm1bKOMPWtsiIft140tm1bKOMPWtsi
• cervical vertebral fusion_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0004620IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal somite development_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0001688IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• anophthalmia_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0001293IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal neurocranium morphology_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0000074IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal heart ventricle morphology_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0005294IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• abnormal costovertebral joint morphology_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0008149IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• absent palatine bone_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0004476IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• absent tympanic ring_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0003138IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli
• exencephaly_Ift140<cauli>/Ift140<cauli>
  http://metadb.riken.jp/0000914IC3HHeHC57BL6JAnuIft140cauliIft140cauliIft140cauli