Brian M. Kevany, et.al., Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration., Human molecular genetics, 2015, 24

http://rdf.ncbi.nlm.nih.gov/pubmed/25616964

Brian M. Kevany, et.al., Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration., Human molecular genetics, 2015, 24

pubmed

allele

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

• BC027072<tm1Kpal>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5751702

表現型アノテーション

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

• disorganized photoreceptor outer segment_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0008586IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal
• decreased b wave amplitude_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0012144IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal
• short photoreceptor outer segment_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0008587IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal
• decreased a wave amplitude_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0012143IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal
• thin retinal outer nuclear layer_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0008515IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal
• abnormal photoreceptor connecting cilium morphology_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0014059IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal
• retinal gliosis_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0009392IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal
• abnormal retinal pigment epithelium morphology_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0005201IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal
• retinal degeneration_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0001326IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal
• retinal outer nuclear layer degeneration_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0008518IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal
• photoreceptor outer segment degeneration_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0008584IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal
• abnormal microglial cell activation_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0010762IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal
• abnormal electroretinogram waveform feature_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0012029IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal
• abnormal retinal pigmentation_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0005103IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal
• abnormal photoreceptor inner segment morphology_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0003730IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal
• retinal cone cell degeneration_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0008444IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal
• abnormal retinal outer nuclear layer morphology_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0003731IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal
• abnormal cone electrophysiology_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0004022IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal
• abnormal rod electrophysiology_BC027072<tm1Kpal>/BC027072<tm1Kpal>
  http://metadb.riken.jp/0004021IC57BL6JC57BL6NTacBC027072tm1KpalBC027072tm1KpalBC027072tm1Kpal

class

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

• BC027072<tm1Kpal>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5751702