Carrie M. Louie, et.al., AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis., Nature genetics, 2010, 42

http://rdf.ncbi.nlm.nih.gov/pubmed/20081859

Carrie M. Louie, et.al., AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis., Nature genetics, 2010, 42

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

トランスクリプトームデータ

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

• CD04036
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD04036
• CD43933
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD43933

allele

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

• Nphp1<tm1Jgg>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4437792
• Ahi1<tm2.1Jgg>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4437788

表現型アノテーション

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

• decreased body weight_Ahi1<tm1Jgg>/Ahi1<tm1Jgg>
  http://metadb.riken.jp/0001262I129C57BL6FVBNAhi1tm1JggAhi1tm1JggAhi1tm1Jgg
• decreased body size_Ahi1<tm1Jgg>/Ahi1<tm1Jgg>
  http://metadb.riken.jp/0001265I129C57BL6FVBNAhi1tm1JggAhi1tm1JggAhi1tm1Jgg
• thin retinal outer nuclear layer_Ahi1<tm1Jgg>/Ahi1<tm1Jgg>
  http://metadb.riken.jp/0008515I129C57BL6FVBNAhi1tm1JggAhi1tm1JggAhi1tm1Jgg
• thin retinal outer nuclear layer_Ahi1<tm1Jgg>/Ahi1<+>,Nphp1<tm1Jgg>/Nphp1<tm1Jgg>
  http://metadb.riken.jp/0008515I129C57BL6FVBNNMRIAhi1tm1JggAhi1Nphp1tm1JggNphp1tm1JggNphp1tm1JggAhi1Ahi1tm1Jgg
• retinal photoreceptor degeneration_Ahi1<tm1Jgg>/Ahi1<tm1Jgg>,Rho<tm1Jlem>/Rho<+>
  http://metadb.riken.jp/0008450I129C57BL6FVBNAhi1tm1JggAhi1tm1JggRhotm1JlemRhoRhoRhotm1JlemAhi1tm1Jgg
• retinal degeneration_Nphp1<tm1Jgg>/Nphp1<tm1Jgg>
  http://metadb.riken.jp/0001326I129P2OlaHsd129X1SvJC57BL6NMRINphp1tm1JggNphp1tm1JggNphp1tm1Jgg
• absent photoreceptor outer segment_Ahi1<tm1Jgg>/Ahi1<tm1Jgg>
  http://metadb.riken.jp/0008585I129C57BL6FVBNAhi1tm1JggAhi1tm1JggAhi1tm1Jgg
• retinal photoreceptor degeneration_Ahi1<tm1Jgg>/Ahi1<tm1Jgg>
  http://metadb.riken.jp/0008450I129C57BL6FVBNAhi1tm1JggAhi1tm1JggAhi1tm1Jgg
• thin retinal outer nuclear layer_Ahi1<tm1Jgg>/Ahi1<tm2.1Jgg>,Tg(Pax6-cre,GFP)2Pgr/0
  http://metadb.riken.jp/0008515I129C57BL6FVBNAhi1tm1JggAhi1tm21JggTgPax6creGFP2Pgr0TgPax6creGFP2PgrAhi1tm1JggAhi1tm21Jgg
• postnatal lethality, complete penetrance_Ahi1<tm1Jgg>/Ahi1<tm1Jgg>
  http://metadb.riken.jp/0011085I129C57BL6FVBNAhi1tm1JggAhi1tm1JggAhi1tm1Jgg
• thin retinal outer nuclear layer_Nphp1<tm1Jgg>/Nphp1<tm1Jgg>
  http://metadb.riken.jp/0008515I129P2OlaHsd129X1SvJC57BL6NMRINphp1tm1JggNphp1tm1JggNphp1tm1Jgg
• thin retinal outer nuclear layer_Ahi1<tm1Jgg>/Ahi1<tm2.1Jgg>,Nphp1<tm1Jgg>/Nphp1<+>,Tg(Pax6-cre,GFP)2Pgr/0
  http://metadb.riken.jp/0008515I129C57BL6FVBNNMRIAhi1tm1JggAhi1tm21JggNphp1tm1JggNphp1TgPax6creGFP2Pgr0TgPax6creGFP2PgrAhi1tm1JggAhi1tm21JggNphp1tm1JggNphp1
• abnormal rod electrophysiology_Ahi1<tm1Jgg>/Ahi1<tm2.1Jgg>,Tg(Nes-cre)1Kln/0
  http://metadb.riken.jp/0004021I129C57BL6FVBNSJLAhi1tm1JggAhi1tm21JggTgNescre1Kln0Ahi1tm21JggTgNescre1KlnAhi1tm1Jgg
• abnormal retinal apoptosis_Ahi1<tm1Jgg>/Ahi1<tm1Jgg>
  http://metadb.riken.jp/0006072I129C57BL6FVBNAhi1tm1JggAhi1tm1JggAhi1tm1Jgg
• absent photoreceptor outer segment_Ahi1<tm1Jgg>/Ahi1<tm1Jgg>,Rho<tm1Jlem>/Rho<+>
  http://metadb.riken.jp/0008585I129C57BL6FVBNAhi1tm1JggAhi1tm1JggRhotm1JlemRhoRhoRhotm1JlemAhi1tm1Jgg