Scott H. Greenwald, et.al., Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease., The American journal of pathology, 2016, 186

http://rdf.ncbi.nlm.nih.gov/pubmed/27207593

Scott H. Greenwald, et.al., Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease., The American journal of pathology, 2016, 186

pubmed

allele

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

• Nmnat1<tvrm113>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5902788
• Nmnat1<imh>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5903758

表現型アノテーション

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

• retinal degeneration_Nmnat1<imh>/Nmnat1<imh>
  http://metadb.riken.jp/0001326B6JCC3HNmnat1imhNmnat1imhNmnat1imhNmnat1imh
• retinal photoreceptor degeneration_Nmnat1<tvrm113>/Nmnat1<tvrm113>
  http://metadb.riken.jp/0008450C57BL6JNmnat1tvrm113PjnNmnat1tvrm113Nmnat1tvrm113Nmnat1tvrm113
• decreased total retina thickness_Nmnat1<tvrm113>/Nmnat1<tvrm113>
  http://metadb.riken.jp/0011965C57BL6JNmnat1tvrm113PjnNmnat1tvrm113Nmnat1tvrm113Nmnat1tvrm113
• disorganized retinal inner nuclear layer_Nmnat1<imh>/Nmnat1<imh>
  http://metadb.riken.jp/0008512B6JCC3HNmnat1imhNmnat1imhNmnat1imhNmnat1imh
• decreased total retina thickness_Nmnat1<imh>/Nmnat1<imh>
  http://metadb.riken.jp/0011965B6JCC3HNmnat1imhNmnat1imhNmnat1imhNmnat1imh
• decreased a wave amplitude_Nmnat1<tvrm113>/Nmnat1<tvrm113>
  http://metadb.riken.jp/0012143C57BL6JNmnat1tvrm113PjnNmnat1tvrm113Nmnat1tvrm113Nmnat1tvrm113
• decreased b wave amplitude_Nmnat1<imh>/Nmnat1<imh>
  http://metadb.riken.jp/0012144B6JCC3HNmnat1imhNmnat1imhNmnat1imhNmnat1imh
• abnormal retina morphology_Nmnat1<tvrm113>/Nmnat1<tvrm113>
  http://metadb.riken.jp/0001325C57BL6JNmnat1tvrm113PjnNmnat1tvrm113Nmnat1tvrm113Nmnat1tvrm113
• photoreceptor outer segment degeneration_Nmnat1<imh>/Nmnat1<imh>
  http://metadb.riken.jp/0008584B6JCC3HNmnat1imhNmnat1imhNmnat1imhNmnat1imh
• decreased b wave amplitude_Nmnat1<tvrm113>/Nmnat1<tvrm113>
  http://metadb.riken.jp/0012144C57BL6JNmnat1tvrm113PjnNmnat1tvrm113Nmnat1tvrm113Nmnat1tvrm113
• abnormal retinal inner nuclear layer morphology_Nmnat1<imh>/Nmnat1<imh>
  http://metadb.riken.jp/0003733B6JCC3HNmnat1imhNmnat1imhNmnat1imhNmnat1imh
• retinal pigment epithelium atrophy_Nmnat1<imh>/Nmnat1<imh>
  http://metadb.riken.jp/0005548B6JCC3HNmnat1imhNmnat1imhNmnat1imhNmnat1imh
• abnormal rod electrophysiology_Nmnat1<tvrm113>/Nmnat1<tvrm113>
  http://metadb.riken.jp/0004021C57BL6JNmnat1tvrm113PjnNmnat1tvrm113Nmnat1tvrm113Nmnat1tvrm113
• decreased a wave amplitude_Nmnat1<imh>/Nmnat1<imh>
  http://metadb.riken.jp/0012143B6JCC3HNmnat1imhNmnat1imhNmnat1imhNmnat1imh
• thin retinal inner nuclear layer_Nmnat1<imh>/Nmnat1<imh>
  http://metadb.riken.jp/0008511B6JCC3HNmnat1imhNmnat1imhNmnat1imhNmnat1imh
• abnormal retinal vasculature morphology_Nmnat1<imh>/Nmnat1<imh>
  http://metadb.riken.jp/0002792B6JCC3HNmnat1imhNmnat1imhNmnat1imhNmnat1imh
• thin retinal outer nuclear layer_Nmnat1<imh>/Nmnat1<imh>
  http://metadb.riken.jp/0008515B6JCC3HNmnat1imhNmnat1imhNmnat1imhNmnat1imh
• photoreceptor inner segment degeneration_Nmnat1<imh>/Nmnat1<imh>
  http://metadb.riken.jp/0008580B6JCC3HNmnat1imhNmnat1imhNmnat1imhNmnat1imh
• abnormal cone electrophysiology_Nmnat1<tvrm113>/Nmnat1<tvrm113>
  http://metadb.riken.jp/0004022C57BL6JNmnat1tvrm113PjnNmnat1tvrm113Nmnat1tvrm113Nmnat1tvrm113
• abnormal retinal vasculature morphology_Nmnat1<tvrm113>/Nmnat1<tvrm113>
  http://metadb.riken.jp/0002792C57BL6JNmnat1tvrm113PjnNmnat1tvrm113Nmnat1tvrm113Nmnat1tvrm113
• retinal photoreceptor degeneration_Nmnat1<imh>/Nmnat1<imh>
  http://metadb.riken.jp/0008450B6JCC3HNmnat1imhNmnat1imhNmnat1imhNmnat1imh
• retinal outer nuclear layer degeneration_Nmnat1<imh>/Nmnat1<imh>
  http://metadb.riken.jp/0008518B6JCC3HNmnat1imhNmnat1imhNmnat1imhNmnat1imh
• impaired pupillary reflex_Nmnat1<imh>/Nmnat1<imh>
  http://metadb.riken.jp/0006243B6JCC3HNmnat1imhNmnat1imhNmnat1imhNmnat1imh
• retinal pigment epithelium atrophy_Nmnat1<tvrm113>/Nmnat1<tvrm113>
  http://metadb.riken.jp/0005548C57BL6JNmnat1tvrm113PjnNmnat1tvrm113Nmnat1tvrm113Nmnat1tvrm113
• retinal degeneration_Nmnat1<tvrm113>/Nmnat1<tvrm113>
  http://metadb.riken.jp/0001326C57BL6JNmnat1tvrm113PjnNmnat1tvrm113Nmnat1tvrm113Nmnat1tvrm113

class

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

• Nmnat1<tvrm113>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5902788
• Nmnat1<imh>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5903758