impaired skeletal muscle contractility_Col6a1<tm1Gmb>/Col6a1<tm1Gmb>

http://metadb.riken.jp/0002841I129S1Sv129X1SvJC57BL6Col6a1tm1GmbCol6a1tm1GmbCol6a1tm1Gmb

impaired skeletal muscle contractility_Col6a1<tm1Gmb>/Col6a1<tm1Gmb>

表現型アノテーション

MGI marker

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

• collagen, type VI, alpha 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:88459

遺伝子型

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

• Col6a1<tm1Gmb>/Col6a1<tm1Gmb>

アレルシンボル

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

• Col6a1<tm1Gmb>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ * C57BL/6

MP annotation

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

• impaired skeletal muscle contractility
  http://purl.obolibrary.org/obo/MP_0002841

文献

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

• William A. Irwin, et.al., Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency., Nature genetics, 2003, 35
  http://rdf.ncbi.nlm.nih.gov/pubmed/14625552