abnormal renal glomerulus basement membrane morphology_Col4a3<tm1Jhm>/Col4a3<tm1Jhm>

http://metadb.riken.jp/0011348I129S1Sv129X1SvJCol4a3tm1JhmCol4a3tm1JhmCol4a3tm1Jhm

abnormal renal glomerulus basement membrane morphology_Col4a3<tm1Jhm>/Col4a3<tm1Jhm>

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 3
  http://metadb.riken.jp/db/mgi_rdf/MGI:104688

遺伝子型

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

• Col4a3<tm1Jhm>/Col4a3<tm1Jhm>

アレルシンボル

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

• Col4a3<tm1Jhm>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ

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

• J H. Miner, et.al., Molecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): implications for Alport syndrome., The Journal of cell biology, 1996, 135
  http://rdf.ncbi.nlm.nih.gov/pubmed/8947561
• Xiaobo. Lin, et.al., Feasibility of repairing glomerular basement membrane defects in Alport syndrome., Journal of the American Society of Nephrology : JASN, 2014, 25
  http://rdf.ncbi.nlm.nih.gov/pubmed/24262794