retinal pigment epithelium atrophy_Efemp1<tm1Lmar>/Efemp1<+>

http://metadb.riken.jp/0005548I129X1SvJBALBcEfemp1tm1LmarEfemp1Efemp1Efemp1tm1Lmar

retinal pigment epithelium atrophy_Efemp1<tm1Lmar>/Efemp1<+>

表現型アノテーション

MGI marker

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

• epidermal growth factor-containing fibulin-like extracellular matrix protein 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1339998

遺伝子型

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

• Efemp1<tm1Lmar>/Efemp1<+>

アレルシンボル

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

• Efemp1<+>|Efemp1<tm1Lmar>

遺伝的背景

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

• involves: 129X1/SvJ * BALB/c

MP annotation

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

• retinal pigment epithelium atrophy
  http://purl.obolibrary.org/obo/MP_0005548

文献

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

• Lihua Y. Marmorstein, et.al., Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration., Human molecular genetics, 2007, 16
  http://rdf.ncbi.nlm.nih.gov/pubmed/17664227