abnormal dermal layer morphology_Col5a1<tm1Rjw>/Col5a1<+>

http://metadb.riken.jp/0001243I129S6SvEvTacC57BL6Col5a1tm1RjwCol5a1Col5a1Col5a1tm1Rjw

abnormal dermal layer morphology_Col5a1<tm1Rjw>/Col5a1<+>

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 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:88457

遺伝子型

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

• Col5a1<tm1Rjw>/Col5a1<+>

アレルシンボル

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

• Col5a1<+>|Col5a1<tm1Rjw>

遺伝的背景

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

• involves: 129S6/SvEvTac * C57BL/6

MP annotation

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

• abnormal dermal layer morphology
  http://purl.obolibrary.org/obo/MP_0001243

文献

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

• Richard J. Wenstrup, et.al., Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages., The Journal of biological chemistry, 2006, 281
  http://rdf.ncbi.nlm.nih.gov/pubmed/16492673