short photoreceptor outer segment_Rpe65<tm1Tmr>/Rpe65<tm1Tmr>

http://metadb.riken.jp/0008587I129S1Sv129X1SvJC57BL6Rpe65tm1TmrRpe65tm1TmrRpe65tm1Tmr

short photoreceptor outer segment_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

• short photoreceptor outer segment
  http://purl.obolibrary.org/obo/MP_0008587

文献

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

• Marijana. Samardzija, et.al., R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal., Human molecular genetics, 2008, 17
  http://rdf.ncbi.nlm.nih.gov/pubmed/17933883