susceptible to malignant hyperthermia_Ryr1<tm1.1Inp>/Ryr1<+>

http://metadb.riken.jp/0020214I129S1Sv129X1SvJC57BL6Ryr1tm11InpRyr1Ryr1tm11InpRyr1

susceptible to malignant hyperthermia_Ryr1<tm1.1Inp>/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<tm1.1Inp>/Ryr1<+>

アレルシンボル

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

• Ryr1<tm1.1Inp>|Ryr1<+>

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

• susceptible to malignant hyperthermia
  http://purl.obolibrary.org/obo/MP_0020214

文献

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

• Genaro C. Barrientos, et.al., Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle., The Journal of biological chemistry, 2012, 287
  http://rdf.ncbi.nlm.nih.gov/pubmed/22139840