Cassandre. Labelle-Dumais, et.al., COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans., PLoS genetics, 2011, 7

http://rdf.ncbi.nlm.nih.gov/pubmed/21625620

Cassandre. Labelle-Dumais, et.al., COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans., PLoS genetics, 2011, 7

pubmed

表現型アノテーション

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

• decreased grip strength_Col4a1<deltaex40>/Col4a1<+>
  http://metadb.riken.jp/0010053I129SSvEvC57BL6JCol4a1deltaex40Col4a1Col4a1deltaex40Col4a1
• abnormal retinal ganglion cell morphology_Col4a1<deltaex40>/Col4a1<+>
  http://metadb.riken.jp/0008056I129SSvEvC57BL6JCol4a1deltaex40Col4a1Col4a1deltaex40Col4a1
• abnormal cerebral cortex morphology_Col4a1<deltaex40>/Col4a1<+>
  http://metadb.riken.jp/0000788I129SSvEvC57BL6JCol4a1deltaex40Col4a1Col4a1deltaex40Col4a1
• myopathy_Col4a1<deltaex40>/Col4a1<+>
  http://metadb.riken.jp/0000751I129SSvEvC57BL6JCASTEiJCol4a1deltaex40Col4a1Col4a1Col4a1deltaex40
• abnormal retina inner limiting membrane morphology_Col4a1<deltaex40>/Col4a1<+>
  http://metadb.riken.jp/0010235I129SSvEvC57BL6JCol4a1deltaex40Col4a1Col4a1deltaex40Col4a1
• abnormal retina morphology_Col4a1<deltaex40>/Col4a1<+>
  http://metadb.riken.jp/0001325I129SSvEvC57BL6JCol4a1deltaex40Col4a1Col4a1deltaex40Col4a1
• microphthalmia_Col4a1<deltaex40>/Col4a1<+>
  http://metadb.riken.jp/0001297I129SSvEvC57BL6JCol4a1deltaex40Col4a1Col4a1deltaex40Col4a1
• abnormal brain pia mater morphology_Col4a1<deltaex40>/Col4a1<+>
  http://metadb.riken.jp/0009026I129SSvEvC57BL6JCol4a1deltaex40Col4a1Col4a1deltaex40Col4a1
• delaminated cerebral cortex_Col4a1<deltaex40>/Col4a1<+>
  http://metadb.riken.jp/0000791I129SSvEvC57BL6JCol4a1deltaex40Col4a1Col4a1deltaex40Col4a1
• optic nerve hypoplasia_Col4a1<deltaex40>/Col4a1<+>
  http://metadb.riken.jp/0006221I129SSvEvC57BL6JCol4a1deltaex40Col4a1Col4a1deltaex40Col4a1
• abnormal retinal neuronal layer morphology_Col4a1<deltaex40>/Col4a1<+>
  http://metadb.riken.jp/0006069I129SSvEvC57BL6JCol4a1deltaex40Col4a1Col4a1deltaex40Col4a1
• myopathy_Col4a1<deltaex40>/Col4a1<+>
  http://metadb.riken.jp/0000751I129SSvEvC57BL6JCol4a1deltaex40Col4a1Col4a1deltaex40Col4a1
• astrocytosis_Col4a1<deltaex40>/Col4a1<+>
  http://metadb.riken.jp/0003354I129SSvEvC57BL6JCol4a1deltaex40Col4a1Col4a1deltaex40Col4a1
• enlarged brain ventricles_Col4a1<deltaex40>/Col4a1<+>
  http://metadb.riken.jp/0011380I129SSvEvC57BL6JCol4a1deltaex40Col4a1Col4a1deltaex40Col4a1
• abnormal retinal vasculature morphology_Col4a1<deltaex40>/Col4a1<+>
  http://metadb.riken.jp/0002792I129SSvEvC57BL6JCol4a1deltaex40Col4a1Col4a1deltaex40Col4a1
• abnormal hippocampus morphology_Col4a1<deltaex40>/Col4a1<+>
  http://metadb.riken.jp/0000807I129SSvEvC57BL6JCol4a1deltaex40Col4a1Col4a1deltaex40Col4a1
• increased circulating creatine kinase level_Col4a1<deltaex40>/Col4a1<+>
  http://metadb.riken.jp/0010090I129SSvEvC57BL6JCol4a1deltaex40Col4a1Col4a1deltaex40Col4a1