abnormal renal glomerulus basement membrane morphology_Col4a1<tm1.1Ics>/Col4a1<+>

http://metadb.riken.jp/0011348I129S2SvPasC57BL6Col4a1tm11IcsCol4a1Col4a1tm11IcsCol4a1

abnormal renal glomerulus basement membrane morphology_Col4a1<tm1.1Ics>/Col4a1<+>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• collagen, type IV, alpha 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:88454

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Col4a1<tm1.1Ics>/Col4a1<+>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Col4a1<tm1.1Ics>|Col4a1<+>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• involves: 129S2/SvPas * C57BL/6

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• abnormal renal glomerulus basement membrane morphology
  http://purl.obolibrary.org/obo/MP_0011348

文献

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

• 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