abnormal cutaneous collagen fibril morphology_Col5a2<tm1.2Dgr>/Col5a2<tm1.2Dgr>

http://metadb.riken.jp/0008438I129S7SvEvBrdC57BL6DBA2Col5a2tm12DgrCol5a2tm12DgrCol5a2tm12Dgr

abnormal cutaneous collagen fibril morphology_Col5a2<tm1.2Dgr>/Col5a2<tm1.2Dgr>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• collagen, type V, alpha 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:88458

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Col5a2<tm1.2Dgr>/Col5a2<tm1.2Dgr>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Col5a2<tm1.2Dgr>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• involves: 129S7/SvEvBrd * C57BL/6 * DBA/2

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• abnormal cutaneous collagen fibril morphology
  http://purl.obolibrary.org/obo/MP_0008438

文献

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

• 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