Melanie. Schütz, et.al., The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome., Human molecular genetics, 2011, 20

http://rdf.ncbi.nlm.nih.gov/pubmed/20926451

Melanie. Schütz, et.al., The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome., Human molecular genetics, 2011, 20

pubmed

allele

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

• Gjb2<tm2.1Kwi>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4867481
• Gjb2<tm2.2Kwi>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4867482

表現型アノテーション

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

• abnormal nail morphology_Gjb2<tm2.2Kwi>/Gjb2<+>,Tg(Pgk1-cre)1Lni/0
  http://metadb.riken.jp/0000579I129Sv129P2OlaHsdBALBcC57BL6Gjb2tm22KwiGjb2TgPgk1cre1Lni0Gjb2Gjb2tm22KwiTgPgk1cre1Lni
• short tail_Gjb2<tm2.2Kwi>/Gjb2<+>,Tg(Pgk1-cre)1Lni/0
  http://metadb.riken.jp/0000592I129Sv129P2OlaHsdBALBcC57BL6Gjb2tm22KwiGjb2TgPgk1cre1Lni0Gjb2Gjb2tm22KwiTgPgk1cre1Lni
• scaly skin_Gjb2<tm2.2Kwi>/Gjb2<+>,Tg(Pgk1-cre)1Lni/0
  http://metadb.riken.jp/0001192I129Sv129P2OlaHsdBALBcC57BL6Gjb2tm22KwiGjb2TgPgk1cre1Lni0Gjb2Gjb2tm22KwiTgPgk1cre1Lni
• shiny skin_Gjb2<tm2.2Kwi>/Gjb2<+>,Tg(Pgk1-cre)1Lni/0
  http://metadb.riken.jp/0001196I129Sv129P2OlaHsdBALBcC57BL6Gjb2tm22KwiGjb2TgPgk1cre1Lni0Gjb2Gjb2tm22KwiTgPgk1cre1Lni
• thick epidermis_Gjb2<tm2.2Kwi>/Gjb2<+>,Tg(Pgk1-cre)1Lni/0
  http://metadb.riken.jp/0001219I129Sv129P2OlaHsdBALBcC57BL6Gjb2tm22KwiGjb2TgPgk1cre1Lni0Gjb2Gjb2tm22KwiTgPgk1cre1Lni
• epidermal hyperplasia_Gjb2<tm2.2Kwi>/Gjb2<+>,Tg(Pgk1-cre)1Lni/0
  http://metadb.riken.jp/0001222I129Sv129P2OlaHsdBALBcC57BL6Gjb2tm22KwiGjb2TgPgk1cre1Lni0Gjb2Gjb2tm22KwiTgPgk1cre1Lni
他12件を見る
• hyperkeratosis_Gjb2<tm2.2Kwi>/Gjb2<+>,Tg(Pgk1-cre)1Lni/0
  http://metadb.riken.jp/0001242I129Sv129P2OlaHsdBALBcC57BL6Gjb2tm22KwiGjb2TgPgk1cre1Lni0Gjb2Gjb2tm22KwiTgPgk1cre1Lni
• decreased body size_Gjb2<tm2.2Kwi>/Gjb2<+>,Tg(Pgk1-cre)1Lni/0
  http://metadb.riken.jp/0001265I129Sv129P2OlaHsdBALBcC57BL6Gjb2tm22KwiGjb2TgPgk1cre1Lni0Gjb2Gjb2tm22KwiTgPgk1cre1Lni
• female infertility_Gjb2<tm2.2Kwi>/Gjb2<+>,Tg(Pgk1-cre)1Lni/0
  http://metadb.riken.jp/0001926I129Sv129P2OlaHsdBALBcC57BL6Gjb2tm22KwiGjb2TgPgk1cre1Lni0Gjb2Gjb2tm22KwiTgPgk1cre1Lni
• abnormal skin morphology_Gjb2<tm2.2Kwi>/Gjb2<+>,Tg(Pgk1-cre)1Lni/0
  http://metadb.riken.jp/0002060I129Sv129P2OlaHsdBALBcC57BL6Gjb2tm22KwiGjb2TgPgk1cre1Lni0Gjb2Gjb2tm22KwiTgPgk1cre1Lni
• abnormal tail morphology_Gjb2<tm2.2Kwi>/Gjb2<+>,Tg(Pgk1-cre)1Lni/0
  http://metadb.riken.jp/0002111I129Sv129P2OlaHsdBALBcC57BL6Gjb2tm22KwiGjb2TgPgk1cre1Lni0Gjb2Gjb2tm22KwiTgPgk1cre1Lni
• impaired skin barrier function_Gjb2<tm2.2Kwi>/Gjb2<+>,Tg(Pgk1-cre)1Lni/0
  http://metadb.riken.jp/0002796I129Sv129P2OlaHsdBALBcC57BL6Gjb2tm22KwiGjb2TgPgk1cre1Lni0Gjb2Gjb2tm22KwiTgPgk1cre1Lni
• decreased endocochlear potential_Gjb2<tm2.2Kwi>/Gjb2<+>,Tg(Pgk1-cre)1Lni/0
  http://metadb.riken.jp/0004411I129Sv129P2OlaHsdBALBcC57BL6Gjb2tm22KwiGjb2TgPgk1cre1Lni0Gjb2Gjb2tm22KwiTgPgk1cre1Lni
• impaired hearing_Gjb2<tm2.2Kwi>/Gjb2<+>,Tg(Pgk1-cre)1Lni/0
  http://metadb.riken.jp/0006325I129Sv129P2OlaHsdBALBcC57BL6Gjb2tm22KwiGjb2TgPgk1cre1Lni0Gjb2Gjb2tm22KwiTgPgk1cre1Lni
• increased keratinocyte proliferation_Gjb2<tm2.2Kwi>/Gjb2<+>,Tg(Pgk1-cre)1Lni/0
  http://metadb.riken.jp/0009583I129Sv129P2OlaHsdBALBcC57BL6Gjb2tm22KwiGjb2TgPgk1cre1Lni0Gjb2Gjb2tm22KwiTgPgk1cre1Lni
• postnatal lethality, incomplete penetrance_Gjb2<tm2.2Kwi>/Gjb2<+>,Tg(Pgk1-cre)1Lni/0
  http://metadb.riken.jp/0011086I129Sv129P2OlaHsdBALBcC57BL6Gjb2tm22KwiGjb2TgPgk1cre1Lni0Gjb2Gjb2tm22KwiTgPgk1cre1Lni
• prenatal lethality, incomplete penetrance_Gjb2<tm2.2Kwi>/Gjb2<+>,Tg(Pgk1-cre)1Lni/0
  http://metadb.riken.jp/0011101I129Sv129P2OlaHsdBALBcC57BL6Gjb2tm22KwiGjb2TgPgk1cre1Lni0Gjb2Gjb2tm22KwiTgPgk1cre1Lni
• increased or absent threshold for auditory brainstem response_Gjb2<tm2.2Kwi>/Gjb2<+>,Tg(Pgk1-cre)1Lni/0
  http://metadb.riken.jp/0011967I129Sv129P2OlaHsdBALBcC57BL6Gjb2tm22KwiGjb2TgPgk1cre1Lni0Gjb2Gjb2tm22KwiTgPgk1cre1Lni

class

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

• Gjb2<tm2.1Kwi>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4867481
• Gjb2<tm2.2Kwi>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4867482

トランスクリプトームデータ

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

• CD19989
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD19989