abnormal retinal pigment epithelium morphology_Efemp1<tm1Eap>/Efemp1<tm1Eap>

http://metadb.riken.jp/0005201I129S6SvEvTacC57BL6FVBNEfemp1tm1EapEfemp1tm1EapEfemp1tm1Eap

abnormal retinal pigment epithelium morphology_Efemp1<tm1Eap>/Efemp1<tm1Eap>

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<tm1Eap>/Efemp1<tm1Eap>

アレルシンボル

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

• Efemp1<tm1Eap>

遺伝的背景

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

• involves: 129S6/SvEvTac * C57BL/6 * FVB/N

MP annotation

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

• abnormal retinal pigment epithelium morphology
  http://purl.obolibrary.org/obo/MP_0005201

文献

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

• Li. Fu, et.al., The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice., Human molecular genetics, 2007, 16
  http://rdf.ncbi.nlm.nih.gov/pubmed/17666404