cyanosis_Ryr1<tm1.1Dhm>/Ryr1<+>

http://metadb.riken.jp/0001575I129S2SvPasCrl129S6SvEvTacRyr1tm11DhmRyr1Ryr1Ryr1tm11Dhm

cyanosis_Ryr1<tm1.1Dhm>/Ryr1<+>

表現型アノテーション

MGI marker

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

• ryanodine receptor 1, skeletal muscle
  http://metadb.riken.jp/db/mgi_rdf/MGI:99659

遺伝子型

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

• Ryr1<tm1.1Dhm>/Ryr1<+>

アレルシンボル

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

• Ryr1<+>|Ryr1<tm1.1Dhm>

遺伝的背景

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

• involves: 129S2/SvPasCrl * 129S6/SvEvTac

MP annotation

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

• cyanosis
  http://purl.obolibrary.org/obo/MP_0001575

文献

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

• Elena. Zvaritch, et.al., Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods., Proceedings of the National Academy of Sciences of the United States of America, 2009, 106
  http://rdf.ncbi.nlm.nih.gov/pubmed/19959667