Stylianos. Michalakis, et.al., Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2., Human molecular genetics, 2014, 23

http://rdf.ncbi.nlm.nih.gov/pubmed/24163243

Stylianos. Michalakis, et.al., Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2., Human molecular genetics, 2014, 23

pubmed

表現型アノテーション

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

• abnormal vision_Cacna1f<tm1.1Sdie>/Cacna1f<tm1.1Sdie>
  http://metadb.riken.jp/0002090IC57BL6Cacna1ftm11SdieCacna1ftm11SdieCacna1ftm11Sdie
• abnormal synapse morphology_Cacna1f<tm1.1Sdie>/Cacna1f<+>
  http://metadb.riken.jp/0009538IC57BL6Cacna1ftm11SdieCacna1fCacna1fCacna1ftm11Sdie
• abnormal eye physiology_Cacna1f<tm1.1Sdie>/Cacna1f<+>
  http://metadb.riken.jp/0005253IC57BL6Cacna1ftm11SdieCacna1fCacna1fCacna1ftm11Sdie
• abnormal b-wave shape_Cacna1f<tm1.1Sdie>/Y
  http://metadb.riken.jp/0012035IC57BL6Cacna1ftm11SdieYCacna1ftm11Sdie
• retinal gliosis_Cacna1f<tm1.1Sdie>/Y
  http://metadb.riken.jp/0009392IC57BL6Cacna1ftm11SdieYCacna1ftm11Sdie
• thin retinal outer plexiform layer_Cacna1f<tm1.1Sdie>/Y
  http://metadb.riken.jp/0008519IC57BL6Cacna1ftm11SdieYCacna1ftm11Sdie
• abnormal horizontal cell morphology_Cacna1f<tm1.1Sdie>/Cacna1f<+>
  http://metadb.riken.jp/0006068IC57BL6Cacna1ftm11SdieCacna1fCacna1fCacna1ftm11Sdie
• abnormal retinal bipolar cell morphology_Cacna1f<tm1.1Sdie>/Y
  http://metadb.riken.jp/0006073IC57BL6Cacna1ftm11SdieYCacna1ftm11Sdie
• abnormal synapse morphology_Cacna1f<tm1.1Sdie>/Y
  http://metadb.riken.jp/0009538IC57BL6Cacna1ftm11SdieYCacna1ftm11Sdie
• abnormal synapse morphology_Cacna1f<tm1.1Sdie>/Cacna1f<tm1.1Sdie>
  http://metadb.riken.jp/0009538IC57BL6Cacna1ftm11SdieCacna1ftm11SdieCacna1ftm11Sdie
• thin retinal outer plexiform layer_Cacna1f<tm1.1Sdie>/Cacna1f<+>
  http://metadb.riken.jp/0008519IC57BL6Cacna1ftm11SdieCacna1fCacna1fCacna1ftm11Sdie
• decreased b wave amplitude_Cacna1f<tm1.1Sdie>/Cacna1f<+>
  http://metadb.riken.jp/0012144IC57BL6Cacna1ftm11SdieCacna1fCacna1fCacna1ftm11Sdie
• abnormal horizontal cell morphology_Cacna1f<tm1.1Sdie>/Cacna1f<tm1.1Sdie>
  http://metadb.riken.jp/0006068IC57BL6Cacna1ftm11SdieCacna1ftm11SdieCacna1ftm11Sdie
• abnormal retina morphology_Cacna1f<tm1.1Sdie>/Cacna1f<+>
  http://metadb.riken.jp/0001325IC57BL6Cacna1ftm11SdieCacna1fCacna1fCacna1ftm11Sdie
• abnormal horizontal cell morphology_Cacna1f<tm1.1Sdie>/Y
  http://metadb.riken.jp/0006068IC57BL6Cacna1ftm11SdieYCacna1ftm11Sdie
• thin retinal outer plexiform layer_Cacna1f<tm1.1Sdie>/Cacna1f<tm1.1Sdie>
  http://metadb.riken.jp/0008519IC57BL6Cacna1ftm11SdieCacna1ftm11SdieCacna1ftm11Sdie
• abnormal retinal outer nuclear layer morphology_Cacna1f<tm1.1Sdie>/Cacna1f<tm1.1Sdie>
  http://metadb.riken.jp/0003731IC57BL6Cacna1ftm11SdieCacna1ftm11SdieCacna1ftm11Sdie
• abnormal retinal inner plexiform layer morphology_Cacna1f<tm1.1Sdie>/Cacna1f<tm1.1Sdie>
  http://metadb.riken.jp/0003734IC57BL6Cacna1ftm11SdieCacna1ftm11SdieCacna1ftm11Sdie
• retinal cone cell degeneration_Cacna1f<tm1.1Sdie>/Cacna1f<tm1.1Sdie>
  http://metadb.riken.jp/0008444IC57BL6Cacna1ftm11SdieCacna1ftm11SdieCacna1ftm11Sdie
• blindness_Cacna1f<tm1.1Sdie>/Cacna1f<tm1.1Sdie>
  http://metadb.riken.jp/0002001IC57BL6Cacna1ftm11SdieCacna1ftm11SdieCacna1ftm11Sdie
• abnormal retinal bipolar cell morphology_Cacna1f<tm1.1Sdie>/Cacna1f<+>
  http://metadb.riken.jp/0006073IC57BL6Cacna1ftm11SdieCacna1fCacna1fCacna1ftm11Sdie
• retinal cone cell degeneration_Cacna1f<tm1.1Sdie>/Y
  http://metadb.riken.jp/0008444IC57BL6Cacna1ftm11SdieYCacna1ftm11Sdie
• abnormal retinal outer plexiform layer morphology_Cacna1f<tm1.1Sdie>/Cacna1f<tm1.1Sdie>
  http://metadb.riken.jp/0003732IC57BL6Cacna1ftm11SdieCacna1ftm11SdieCacna1ftm11Sdie
• abnormal vision_Cacna1f<tm1.1Sdie>/Y
  http://metadb.riken.jp/0002090IC57BL6Cacna1ftm11SdieYCacna1ftm11Sdie
• abnormal retinal outer plexiform layer morphology_Cacna1f<tm1.1Sdie>/Y
  http://metadb.riken.jp/0003732IC57BL6Cacna1ftm11SdieYCacna1ftm11Sdie
• abnormal retinal cone cell morphology_Cacna1f<tm1.1Sdie>/Cacna1f<tm1.1Sdie>
  http://metadb.riken.jp/0001006IC57BL6Cacna1ftm11SdieCacna1ftm11SdieCacna1ftm11Sdie
• abnormal retinal bipolar cell morphology_Cacna1f<tm1.1Sdie>/Cacna1f<tm1.1Sdie>
  http://metadb.riken.jp/0006073IC57BL6Cacna1ftm11SdieCacna1ftm11SdieCacna1ftm11Sdie
• abnormal retinal cone cell morphology_Cacna1f<tm1.1Sdie>/Y
  http://metadb.riken.jp/0001006IC57BL6Cacna1ftm11SdieYCacna1ftm11Sdie
• abnormal b-wave shape_Cacna1f<tm1.1Sdie>/Cacna1f<tm1.1Sdie>
  http://metadb.riken.jp/0012035IC57BL6Cacna1ftm11SdieCacna1ftm11SdieCacna1ftm11Sdie
• blindness_Cacna1f<tm1.1Sdie>/Y
  http://metadb.riken.jp/0002001IC57BL6Cacna1ftm11SdieYCacna1ftm11Sdie
• abnormal vision_Cacna1f<tm1.1Sdie>/Cacna1f<+>
  http://metadb.riken.jp/0002090IC57BL6Cacna1ftm11SdieCacna1fCacna1fCacna1ftm11Sdie
• abnormal retinal inner plexiform layer morphology_Cacna1f<tm1.1Sdie>/Y
  http://metadb.riken.jp/0003734IC57BL6Cacna1ftm11SdieYCacna1ftm11Sdie
• abnormal retinal outer nuclear layer morphology_Cacna1f<tm1.1Sdie>/Y
  http://metadb.riken.jp/0003731IC57BL6Cacna1ftm11SdieYCacna1ftm11Sdie
• retinal gliosis_Cacna1f<tm1.1Sdie>/Cacna1f<+>
  http://metadb.riken.jp/0009392IC57BL6Cacna1ftm11SdieCacna1fCacna1fCacna1ftm11Sdie
• retinal gliosis_Cacna1f<tm1.1Sdie>/Cacna1f<tm1.1Sdie>
  http://metadb.riken.jp/0009392IC57BL6Cacna1ftm11SdieCacna1ftm11SdieCacna1ftm11Sdie
• abnormal retinal outer nuclear layer morphology_Cacna1f<tm1.1Sdie>/Cacna1f<+>
  http://metadb.riken.jp/0003731IC57BL6Cacna1ftm11SdieCacna1fCacna1fCacna1ftm11Sdie
• retinal cone cell degeneration_Cacna1f<tm1.1Sdie>/Cacna1f<+>
  http://metadb.riken.jp/0008444IC57BL6Cacna1ftm11SdieCacna1fCacna1fCacna1ftm11Sdie