Arick C. Park, et.al., Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype., The American journal of pathology, 2015, 185

http://rdf.ncbi.nlm.nih.gov/pubmed/25987251

Arick C. Park, et.al., Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype., The American journal of pathology, 2015, 185

pubmed

allele

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

• Col5a2<tm1.1Dgr>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5770420
• Col5a2<tm1.2Dgr>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5817900

class

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

• Col5a2<tm1.1Dgr>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5770420
• Col5a2<tm1.2Dgr>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5817900

表現型アノテーション

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

• vasculature congestion_Col5a2<tm1.2Dgr>/Col5a2<tm1.2Dgr>
  http://metadb.riken.jp/0000255I129S7SvEvBrdC57BL6DBA2Col5a2tm12DgrCol5a2tm12DgrCol5a2tm12Dgr
• abnormal cutaneous collagen fibril morphology_Col5a2<tm1.2Dgr>/Col5a2<+>
  http://metadb.riken.jp/0008438I129S7SvEvBrdC57BL6DBA2Col5a2tm12DgrCol5a2Col5a2Col5a2tm12Dgr
• abnormal skin physiology_Col5a2<tm1.2Dgr>/Col5a2<+>
  http://metadb.riken.jp/0005501I129S7SvEvBrdC57BL6DBA2Col5a2tm12DgrCol5a2Col5a2Col5a2tm12Dgr
• pallor_Col5a2<tm1.2Dgr>/Col5a2<tm1.2Dgr>
  http://metadb.riken.jp/0003717I129S7SvEvBrdC57BL6DBA2Col5a2tm12DgrCol5a2tm12DgrCol5a2tm12Dgr
• abnormal cutaneous collagen fibril morphology_Col5a2<tm1.2Dgr>/Col5a2<tm1.2Dgr>
  http://metadb.riken.jp/0008438I129S7SvEvBrdC57BL6DBA2Col5a2tm12DgrCol5a2tm12DgrCol5a2tm12Dgr
• embryonic lethality during organogenesis, complete penetrance_Col5a2<tm1.2Dgr>/Col5a2<tm1.2Dgr>
  http://metadb.riken.jp/0011098I129S7SvEvBrdC57BL6DBA2Col5a2tm12DgrCol5a2tm12DgrCol5a2tm12Dgr
• abnormal cardiovascular system physiology_Col5a2<tm1.2Dgr>/Col5a2<+>
  http://metadb.riken.jp/0001544I129S7SvEvBrdC57BL6DBA2Col5a2tm12DgrCol5a2Col5a2Col5a2tm12Dgr
• decreased skin tensile strength_Col5a2<tm1.2Dgr>/Col5a2<+>
  http://metadb.riken.jp/0003089I129S7SvEvBrdC57BL6DBA2Col5a2tm12DgrCol5a2Col5a2Col5a2tm12Dgr
• no abnormal phenotype detected_Col5a2<tm1.1Dgr>/Col5a2<+>
  http://metadb.riken.jp/0002169I129S7SvEvBrdC57BL6Col5a2tm11DgrCol5a2Col5a2tm11DgrCol5a2