cardiomyopathy_mt-Nd6<m1Jbst>,mt-Ta<m1Jbst>

http://metadb.riken.jp/0005330I129S1Sv129X1SvJC57BL6NCrlmtNd6m1JbstmtTam1JbstmtNd6m1JbstmtTam1Jbst

cardiomyopathy_mt-Nd6<m1Jbst>,mt-Ta<m1Jbst>

表現型アノテーション

MGI marker

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

• mitochondrially encoded NADH dehydrogenase 6
  http://metadb.riken.jp/db/mgi_rdf/MGI:102495
• mitochondrially encoded tRNA alanine
  http://metadb.riken.jp/db/mgi_rdf/MGI:102491

遺伝子型

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

• mt-Nd6<m1Jbst>,mt-Ta<m1Jbst>

アレルシンボル

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

• mt-Nd6<m1Jbst>|mt-Ta<m1Jbst>

遺伝的背景

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

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

MP annotation

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

• cardiomyopathy
  http://purl.obolibrary.org/obo/MP_0005330

文献

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

• Johanna H K. Kauppila, et.al., A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease., Cell reports, 2016, 16
  http://rdf.ncbi.nlm.nih.gov/pubmed/27626666