Erica R. Eichers, et.al., Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity., Human genetics, 2006, 120

http://rdf.ncbi.nlm.nih.gov/pubmed/16794820

Erica R. Eichers, et.al., Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity., Human genetics, 2006, 120

pubmed

表現型アノテーション

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

• abnormal posterior eye segment morphology_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0005195I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• abnormal retina morphology_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0001325I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• abnormal cone electrophysiology_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0004022I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• abnormal photoreceptor inner segment morphology_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0003730I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• increased circulating LDL cholesterol level_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0000182I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• increased immunoglobulin level_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0002461I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• abnormal circulating mineral level_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0006357I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• increased circulating insulin level_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0002079I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• decreased aggression towards mice_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0003863I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• increased anxiety-related response_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0001363I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• abnormal blood homeostasis_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0009642I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• increased circulating leptin level_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0005669I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• decreased body weight_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0001262I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• abnormal neural tube morphology_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0002151I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• abnormal liver morphology_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0000598I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• renal glomerulus cysts_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0011682I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• abnormal enzyme/coenzyme level_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0005319I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• increased lactate dehydrogenase level_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0002944I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• increased circulating cholesterol level_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0005178I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• abnormal retinal photoreceptor layer morphology_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0003728I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• increased circulating bilirubin level_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0005344I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• optic nerve atrophy_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0001059I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• decreased body size_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0001265I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• kidney cysts_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0003675I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• increased blood urea nitrogen level_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0005565I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• increased susceptibility to age related obesity_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0003212I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• abnormal circulating hormone level_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0005418I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• abnormal photoreceptor outer segment morphology_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0003729I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• increased abdominal adipose tissue amount_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0020411I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• enlarged liver_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0000599I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• increased circulating glucose level_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0005559I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• hydrometrocolpos_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0003537I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• increased circulating VLDL cholesterol level_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0005145I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• increased circulating HDL cholesterol level_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0001556I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• abnormal ocular fundus morphology_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0002864I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• abnormal eye electrophysiology_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0005551I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• perinatal lethality, incomplete penetrance_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0011090I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• increased circulating sodium level_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0005633I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• increased circulating magnesium level_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0010092I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• abnormal circulating lipid level_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0003949I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• abnormal retinal vasculature morphology_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0002792I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• abnormal liver physiology_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0000609I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• increased thigmotaxis_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0002797I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• abnormal retinal pigment epithelium morphology_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0005201I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• hepatic steatosis_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0002628I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk