acidemia_Ryr1<tm2.1Alle>/Ryr1<+>

http://metadb.riken.jp/0003030I129S1Sv129X1SvJC57BL6Ryr1tm21AlleRyr1Ryr1Ryr1tm21Alle

acidemia_Ryr1<tm2.1Alle>/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<tm2.1Alle>/Ryr1<+>

アレルシンボル

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

• Ryr1<+>|Ryr1<tm2.1Alle>

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

• acidemia
  http://purl.obolibrary.org/obo/MP_0003030

文献

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

• Tianzhong. Yang, et.al., Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse., Anesthesiology, 2006, 105
  http://rdf.ncbi.nlm.nih.gov/pubmed/17122579