Olga. Igoucheva, et.al., Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities., The Journal of biological chemistry, 2015, 290

http://rdf.ncbi.nlm.nih.gov/pubmed/26178373

Olga. Igoucheva, et.al., Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities., The Journal of biological chemistry, 2015, 290

pubmed

allele

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

• Efemp2<tm1.1Chu>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5660409

表現型アノテーション

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

• abnormal cutaneous elastic fiber morphology_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0008418B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• abnormal ascending aorta morphology_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0009867B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• loose skin_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0005421B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• aortic aneurysm_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0006278B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• blepharoptosis_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0001344B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• abnormal aorta bulb morphology_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0011572B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• thin dermal layer_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0001244B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• abnormal hypodermis muscle layer morphology_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0011157B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• abnormal carotid artery morphology_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0004181B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• abnormal cutaneous collagen fibril morphology_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0008438B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• increased aorta wall thickness_Efemp2<tm1.1Chu>/Efemp2<+>
  http://metadb.riken.jp/0010996B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2Efemp2tm11ChuEfemp2
• abnormal aorta elastic tissue morphology_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0009862B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• overexpanded pulmonary alveoli_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0001183B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• focal dorsal hair loss_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0010202B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• alopecia_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0000414B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• abnormal tendon collagen fibril morphology_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0011643B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• respiratory distress_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0001954B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• abnormal aorta smooth muscle morphology_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0009865B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• abnormal descending aorta morphology_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0009869B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• abnormal forelimb morphology_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0000550B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• artery stenosis_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0006135B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• enlarged heart_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0000274B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu
• increased aorta wall thickness_Efemp2<tm1.1Chu>/Efemp2<tm1.1Chu>
  http://metadb.riken.jp/0010996B6SJLEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11ChuEfemp2tm11Chu

class

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

• Efemp2<tm1.1Chu>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5660409