enlarged myocardial fiber_Myoz2<tm1Eno>/Myoz2<+>,Tg(Myh6-MYOZ2*I246M)#Ajm/0

http://metadb.riken.jp/0004564I129SvFVBNMyoz2tm1EnoMyoz2TgMyh6MYOZ2I246MAjm0TgMyh6MYOZ2I246MAjmMyoz2tm1EnoMyoz2

enlarged myocardial fiber_Myoz2<tm1Eno>/Myoz2<+>,Tg(Myh6-MYOZ2*I246M)#Ajm/0

表現型アノテーション

MGI marker

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

• transgene insertion, Ali J Marian
  http://metadb.riken.jp/db/mgi_rdf/MGI:5581487
• myozenin 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1913063

遺伝子型

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

• Myoz2<tm1Eno>/Myoz2<+>,Tg(Myh6-MYOZ2*I246M)#Ajm/0

アレルシンボル

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

• Tg(Myh6-MYOZ2*I246M)#Ajm|Myoz2<tm1Eno>|Myoz2<+>

遺伝的背景

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

• involves: 129/Sv * FVB/N

MP annotation

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

• enlarged myocardial fiber
  http://purl.obolibrary.org/obo/MP_0004564

文献

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

• Alessandra. Ruggiero, et.al., Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity., Cardiovascular research, 2013, 97
  http://rdf.ncbi.nlm.nih.gov/pubmed/22987565