Daniel. Kelberman, et.al., Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans., The Journal of clinical investigation, 2006, 116

http://rdf.ncbi.nlm.nih.gov/pubmed/16932809

Daniel. Kelberman, et.al., Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans., The Journal of clinical investigation, 2006, 116

pubmed

表現型アノテーション

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

• decreased luteinizing hormone level_Sox2<tm1Rlb>/Sox2<+>
  http://metadb.riken.jp/0005132I129SSvEvMF1Sox2tm1RlbSox2Sox2tm1RlbSox2
• decreased adrenocorticotropin level_Sox2<tm1Rlb>/Sox2<+>
  http://metadb.riken.jp/0005128I129SSvEvMF1Sox2tm1RlbSox2Sox2tm1RlbSox2
• bifurcated Rathke's pouch_Sox2<tm1Rlb>/Sox2<+>
  http://metadb.riken.jp/0013342I129SSvEvMF1Sox2tm1RlbSox2Sox2tm1RlbSox2
• decreased growth hormone level_Sox2<tm1Rlb>/Sox2<+>
  http://metadb.riken.jp/0005136I129SSvEvMF1Sox2tm1RlbSox2Sox2tm1RlbSox2
• abnormal pituitary gland morphology_Sox2<tm1Rlb>/Sox2<+>
  http://metadb.riken.jp/0000633I129SSvEvMF1Sox2tm1RlbSox2Sox2tm1RlbSox2
• small adenohypophysis_Sox2<tm1Rlb>/Sox2<+>
  http://metadb.riken.jp/0008321I129SSvEvMF1Sox2tm1RlbSox2Sox2tm1RlbSox2
• postnatal lethality, incomplete penetrance_Sox2<tm1Rlb>/Sox2<+>
  http://metadb.riken.jp/0011086I129SSvEvMF1Sox2tm1RlbSox2Sox2tm1RlbSox2
• reduced male fertility_Sox2<tm1Rlb>/Sox2<+>
  http://metadb.riken.jp/0001922I129SSvEvMF1Sox2tm1RlbSox2Sox2tm1RlbSox2
• decreased thyroid-stimulating hormone level_Sox2<tm1Rlb>/Sox2<+>
  http://metadb.riken.jp/0005134I129SSvEvMF1Sox2tm1RlbSox2Sox2tm1RlbSox2
• oligozoospermia_Sox2<tm1Rlb>/Sox2<+>
  http://metadb.riken.jp/0002687I129SSvEvMF1Sox2tm1RlbSox2Sox2tm1RlbSox2
• abnormal adenohypophysis development_Sox2<tm1Rlb>/Sox2<+>
  http://metadb.riken.jp/0013337I129SSvEvMF1Sox2tm1RlbSox2Sox2tm1RlbSox2
• small testis_Sox2<tm1Rlb>/Sox2<+>
  http://metadb.riken.jp/0001147I129SSvEvMF1Sox2tm1RlbSox2Sox2tm1RlbSox2
• abnormal seminiferous tubule morphology_Sox2<tm1Rlb>/Sox2<+>
  http://metadb.riken.jp/0002216I129SSvEvMF1Sox2tm1RlbSox2Sox2tm1RlbSox2
• decreased body size_Sox2<tm1Rlb>/Sox2<+>
  http://metadb.riken.jp/0001265I129SSvEvMF1Sox2tm1RlbSox2Sox2tm1RlbSox2
• decreased somatotroph cell number_Sox2<tm1Rlb>/Sox2<+>
  http://metadb.riken.jp/0008329I129SSvEvMF1Sox2tm1RlbSox2Sox2tm1RlbSox2
• decreased prolactin level_Sox2<tm1Rlb>/Sox2<+>
  http://metadb.riken.jp/0005138I129SSvEvMF1Sox2tm1RlbSox2Sox2tm1RlbSox2