abnormal rod electrophysiology_Rpe65<tm1Tmr>/Rpe65<tm1Tmr>

http://metadb.riken.jp/0004021I129S1Sv129X1SvJC57BL6Rpe65tm1TmrRpe65tm1TmrRpe65tm1Tmr

abnormal rod electrophysiology_Rpe65<tm1Tmr>/Rpe65<tm1Tmr>

表現型アノテーション

MGI marker

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

• retinal pigment epithelium 65
  http://metadb.riken.jp/db/mgi_rdf/MGI:98001

遺伝子型

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

• Rpe65<tm1Tmr>/Rpe65<tm1Tmr>

アレルシンボル

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

• Rpe65<tm1Tmr>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ * C57BL/6

MP annotation

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

• abnormal rod electrophysiology
  http://purl.obolibrary.org/obo/MP_0004021

文献

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

• M W. Seeliger, et.al., New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis., Nature genetics, 2001, 29
  http://rdf.ncbi.nlm.nih.gov/pubmed/11528395
• Michael L. Woodruff, et.al., Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis., Nature genetics, 2003, 35
  http://rdf.ncbi.nlm.nih.gov/pubmed/14517541
• T M. Redmond, et.al., Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle., Nature genetics, 1998, 20
  http://rdf.ncbi.nlm.nih.gov/pubmed/9843205