Joanna. Jakubiczka-Smorag, et.al., Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients., Human genetics, 2016, 135

http://rdf.ncbi.nlm.nih.gov/pubmed/27138983

Joanna. Jakubiczka-Smorag, et.al., Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients., Human genetics, 2016, 135

pubmed

表現型アノテーション

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

• hemoglobinuria_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0000315IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• weakness_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0000746IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• muscle weakness_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0000747IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• flaky skin_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0001195IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• wrinkled skin_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0001211IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• decreased body size_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0001265IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
他24件を見る
• curly vibrissae_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0001274IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• postnatal growth retardation_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0001732IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• abnormal hair growth_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0002073IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• abnormal vibrissa morphology_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0002098IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• nephrolithiasis_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0002708IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• increased urine protein level_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0002962IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• increased neuron apoptosis_Mocs2<tm1(KOMP)Vlcg>/Mocs2<+>
  http://metadb.riken.jp/0003203IC57BL6NTacMocs2tm1KOMPVlcgMocs2Mocs2Mocs2tm1KOMPVlcg
• increased neuron apoptosis_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0003203IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• kidney failure_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0003606IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• ischuria_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0003622IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• abnormal kidney pelvis morphology_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0004194IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• abnormal kidney collecting duct morphology_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0004754IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• increased circulating creatinine level_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0005553IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• abnormal enzyme/coenzyme activity_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0005584IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• slow postnatal weight gain_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0008489IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• decreased blood uric acid level_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0008822IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• urinary bladder obstruction_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0009552IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• abnormal blood homeostasis_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0009642IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• abnormal urine homeostasis_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0009643IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• postnatal lethality, complete penetrance_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0011085IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• erythrocyturia_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0011419IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• decreased urine uric acid level_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0011424IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• cystolithiasis_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0011625IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg
• cystinuria_Mocs2<tm1(KOMP)Vlcg>/Mocs2<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0020400IC57BL6NTacMocs2tm1KOMPVlcgMocs2tm1KOMPVlcgMocs2tm1KOMPVlcg