abnormal photoreceptor outer segment morphology_Rpe65<tm1Lrcb>/Rpe65<tm1Lrcb>

http://metadb.riken.jp/0003729129S6SvEvTacRpe65tm1LrcbRpe65tm1LrcbRpe65tm1LrcbRpe65tm1Lrcb

abnormal photoreceptor outer segment morphology_Rpe65<tm1Lrcb>/Rpe65<tm1Lrcb>

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<tm1Lrcb>/Rpe65<tm1Lrcb>

アレルシンボル

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

• Rpe65<tm1Lrcb>

遺伝的背景

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

• 129S6/SvEvTac-Rpe65<tm1Lrcb>

MP annotation

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

• abnormal photoreceptor outer segment morphology
  http://purl.obolibrary.org/obo/MP_0003729

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