abnormal renal glomerular capsule morphology_Gne<tm1Mhzg>/Gne<tm1Mhzg>

http://metadb.riken.jp/0002828IC57BL6JGnetm1MhzgGnetm1MhzgGnetm1Mhzg

abnormal renal glomerular capsule morphology_Gne<tm1Mhzg>/Gne<tm1Mhzg>

表現型アノテーション

MGI marker

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

• glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
  http://metadb.riken.jp/db/mgi_rdf/MGI:1354951

遺伝子型

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

• Gne<tm1Mhzg>/Gne<tm1Mhzg>

アレルシンボル

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

• Gne<tm1Mhzg>

遺伝的背景

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

• involves: C57BL/6J

MP annotation

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

• abnormal renal glomerular capsule morphology
  http://purl.obolibrary.org/obo/MP_0002828

文献

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

• Belinda. Galeano, et.al., Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine., The Journal of clinical investigation, 2007, 117
  http://rdf.ncbi.nlm.nih.gov/pubmed/17549255