neonatal lethality, complete penetrance_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>

http://metadb.riken.jp/0011087I129S6SvEvTac129X1SvJRyr1tm11DhmRyr1tm11DhmRyr1tm11Dhm

neonatal lethality, complete penetrance_Ryr1<tm1.1Dhm>/Ryr1<tm1.1Dhm>

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<tm1.1Dhm>

アレルシンボル

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

• Ryr1<tm1.1Dhm>

遺伝的背景

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

• involves: 129S6/SvEvTac * 129X1/SvJ

MP annotation

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

• complete neonatal lethality
  http://purl.obolibrary.org/obo/MP_0011087

文献

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

• Elena. Zvaritch, et.al., An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line., Proceedings of the National Academy of Sciences of the United States of America, 2007, 104
  http://rdf.ncbi.nlm.nih.gov/pubmed/18003898