Zhiyong. Chen, et.al., HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease., Journal of the American Society of Nephrology : JASN, 2016, 27

http://rdf.ncbi.nlm.nih.gov/pubmed/26260163

Zhiyong. Chen, et.al., HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease., Journal of the American Society of Nephrology : JASN, 2016, 27

pubmed

allele

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

• Col4a1<tm1.1Ics>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5896437

表現型アノテーション

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

• abnormal kidney papilla morphology_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0004193I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• abnormal retinal blood vessel pattern_Col4a1<tm1.1Ics>/Col4a1<+>
  http://metadb.riken.jp/0010098I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1
• parietal capsular epithelium metaplasia_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0011502I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• abnormal urine albumin level_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0020153I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• abnormal urine albumin level_Col4a1<tm1.1Ics>/Col4a1<+>
  http://metadb.riken.jp/0020153I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1
• renal glomerulus cysts_Col4a1<tm1.1Ics>/Col4a1<+>
  http://metadb.riken.jp/0011682I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1
• abnormal kidney physiology_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0002136I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• kidney inflammation_Col4a1<tm1.1Ics>/Col4a1<+>
  http://metadb.riken.jp/0001859I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1
• increased blood urea nitrogen level_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0005565I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• abnormal podocyte morphology_Col4a1<tm1.1Ics>/Col4a1<+>
  http://metadb.riken.jp/0005326I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1
• renal glomerulus cysts_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0011682I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• abnormal podocyte slit diaphragm morphology_Col4a1<tm1.1Ics>/Col4a1<+>
  http://metadb.riken.jp/0008060I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1
• dystrophic muscle_Col4a1<tm1.1Ics>/Col4a1<+>
  http://metadb.riken.jp/0000752I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1
• dilated proximal convoluted tubules_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0009050I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• abnormal proximal convoluted tubule morphology_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0004756I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• abnormal kidney collecting duct morphology_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0004754I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• delayed kidney development_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0000528I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• abnormal renal glomerulus basement membrane morphology_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0011348I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• brainstem hemorrhage_Col4a1<tm1.1Ics>/Col4a1<+>
  http://metadb.riken.jp/0006051I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1
• albuminuria_Col4a1<tm1.1Ics>/Col4a1<+>
  http://metadb.riken.jp/0002871I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1
• abnormal glomerular mesangium morphology_Col4a1<tm1.1Ics>/Col4a1<+>
  http://metadb.riken.jp/0011339I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1
• abnormal glomerular capsule parietal layer morphology_Col4a1<tm1.1Ics>/Col4a1<+>
  http://metadb.riken.jp/0011498I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1
• abnormal kidney collecting duct epithelium morphology_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0011843I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• abnormal kidney physiology_Col4a1<tm1.1Ics>/Col4a1<+>
  http://metadb.riken.jp/0002136I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1
• abnormal renal glomerulus basement membrane morphology_Col4a1<tm1.1Ics>/Col4a1<+>
  http://metadb.riken.jp/0011348I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1
• abnormal glomerular mesangium morphology_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0011339I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• prenatal lethality, incomplete penetrance_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0011101I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• kidney inflammation_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0001859I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• abnormal renal glomerular capsule morphology_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0002828I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• abnormal podocyte slit diaphragm morphology_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0008060I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• abnormal podocyte foot process morphology_Col4a1<tm1.1Ics>/Col4a1<+>
  http://metadb.riken.jp/0008059I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1
• dilated glomerular capillary_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0011509I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• abnormal podocyte morphology_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0005326I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• abnormal retinal blood vessel pattern_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0010098I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• podocyte foot process effacement_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0008140I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• parietal capsular epithelium metaplasia_Col4a1<tm1.1Ics>/Col4a1<+>
  http://metadb.riken.jp/0011502I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1
• hematuria_Col4a1<tm1.1Ics>/Col4a1<+>
  http://metadb.riken.jp/0005161I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1
• polyuria_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0001762I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• brainstem hemorrhage_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0006051I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• decreased urine osmolality_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0002988I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• abnormal renal glomerulus morphology_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0005325I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• decreased body weight_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0001262I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• erythrocyturia_Col4a1<tm1.1Ics>/Col4a1<+>
  http://metadb.riken.jp/0011419I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1
• albuminuria_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0002871I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• abnormal proximal convoluted tubule morphology_Col4a1<tm1.1Ics>/Col4a1<+>
  http://metadb.riken.jp/0004756I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1
• abnormal glomerular capsule parietal layer morphology_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0011498I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• dystrophic muscle_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0000752I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• erythrocyturia_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0011419I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• renal cast_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0011402I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• hematuria_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0005161I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• increased glomerular capsule space_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0011501I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• dilated kidney collecting duct_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0004860I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics
• decreased collagen level_Col4a1<tm1.1Ics>/Col4a1<tm1.1Ics>
  http://metadb.riken.jp/0020254I129S2SvPasC57BL6Col4a1tm11IcsCol4a1tm11IcsCol4a1tm11Ics

class

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

• Col4a1<tm1.1Ics>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5896437