abnormal retinal pigment epithelium morphology_Prph2<tm1Nmc>/Prph2<+>

http://metadb.riken.jp/0005201I129S1Sv129X1SvJPrph2tm1NmcPrph2Prph2tm1NmcPrph2

abnormal retinal pigment epithelium morphology_Prph2<tm1Nmc>/Prph2<+>

表現型アノテーション

MGI marker

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

• peripherin 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:102791

遺伝子型

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

• Prph2<tm1Nmc>/Prph2<+>

アレルシンボル

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

• Prph2<tm1Nmc>|Prph2<+>

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

文献

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

• Niamh. McNally, et.al., Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene., Human molecular genetics, 2002, 11
  http://rdf.ncbi.nlm.nih.gov/pubmed/11978760