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

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

pubmed

allele

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

• Rpe65<tm1Lrcb>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3771723

class

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

• Rpe65<tm1Lrcb>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3771723

表現型アノテーション

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

• abnormal photoreceptor outer segment morphology_Rpe65<tm1Lrcb>/Rpe65<tm1Lrcb>
  http://metadb.riken.jp/0003729129S6SvEvTacRpe65tm1LrcbRpe65tm1LrcbRpe65tm1LrcbRpe65tm1Lrcb
• retinal outer nuclear layer degeneration_Rpe65<tm1Tmr>/Rpe65<tm1Tmr>
  http://metadb.riken.jp/0008518I129S1Sv129X1SvJC57BL6Rpe65tm1TmrRpe65tm1TmrRpe65tm1Tmr
• delayed dark adaptation_Rpe65<tm1Lrcb>/Rpe65<tm1Lrcb>
  http://metadb.riken.jp/0003011129S6SvEvTacRpe65tm1LrcbRpe65tm1LrcbRpe65tm1LrcbRpe65tm1Lrcb
• abnormal retinal pigment epithelium morphology_Rpe65<tm1Tmr>/Rpe65<tm1Tmr>
  http://metadb.riken.jp/0005201I129S1Sv129X1SvJC57BL6Rpe65tm1TmrRpe65tm1TmrRpe65tm1Tmr
• photoreceptor outer segment degeneration_Rpe65<tm1Lrcb>/Rpe65<tm1Lrcb>
  http://metadb.riken.jp/0008584129S6SvEvTacRpe65tm1LrcbRpe65tm1LrcbRpe65tm1LrcbRpe65tm1Lrcb
• abnormal vitamin A metabolism_Rpe65<tm1Tmr>/Rpe65<tm1Tmr>
  http://metadb.riken.jp/0011233I129S1Sv129X1SvJC57BL6Rpe65tm1TmrRpe65tm1TmrRpe65tm1Tmr
• short photoreceptor outer segment_Rpe65<tm1Tmr>/Rpe65<tm1Tmr>
  http://metadb.riken.jp/0008587I129S1Sv129X1SvJC57BL6Rpe65tm1TmrRpe65tm1TmrRpe65tm1Tmr
• abnormal retinal pigment epithelium morphology_Rpe65<tm1Lrcb>/Rpe65<tm1Lrcb>
  http://metadb.riken.jp/0005201129S6SvEvTacRpe65tm1LrcbRpe65tm1LrcbRpe65tm1LrcbRpe65tm1Lrcb
• retinal outer nuclear layer degeneration_Rpe65<tm1Lrcb>/Rpe65<tm1Lrcb>
  http://metadb.riken.jp/0008518129S6SvEvTacRpe65tm1LrcbRpe65tm1LrcbRpe65tm1LrcbRpe65tm1Lrcb
• photoreceptor outer segment degeneration_Rpe65<tm1Tmr>/Rpe65<tm1Tmr>
  http://metadb.riken.jp/0008584I129S1Sv129X1SvJC57BL6Rpe65tm1TmrRpe65tm1TmrRpe65tm1Tmr
• disorganized photoreceptor outer segment_Rpe65<tm1Tmr>/Rpe65<tm1Tmr>
  http://metadb.riken.jp/0008586I129S1Sv129X1SvJC57BL6Rpe65tm1TmrRpe65tm1TmrRpe65tm1Tmr
• short photoreceptor outer segment_Rpe65<tm1Lrcb>/Rpe65<tm1Lrcb>
  http://metadb.riken.jp/0008587129S6SvEvTacRpe65tm1LrcbRpe65tm1LrcbRpe65tm1LrcbRpe65tm1Lrcb
• abnormal vitamin A metabolism_Rpe65<tm1Lrcb>/Rpe65<tm1Lrcb>
  http://metadb.riken.jp/0011233129S6SvEvTacRpe65tm1LrcbRpe65tm1LrcbRpe65tm1LrcbRpe65tm1Lrcb
• disorganized photoreceptor outer segment_Rpe65<tm1Lrcb>/Rpe65<tm1Lrcb>
  http://metadb.riken.jp/0008586129S6SvEvTacRpe65tm1LrcbRpe65tm1LrcbRpe65tm1LrcbRpe65tm1Lrcb
• abnormal rod electrophysiology_Rpe65<tm1Lrcb>/Rpe65<tm1Lrcb>
  http://metadb.riken.jp/0004021129S6SvEvTacRpe65tm1LrcbRpe65tm1LrcbRpe65tm1LrcbRpe65tm1Lrcb