lethality at weaning, incomplete penetrance_Jph3<tm1Hta>/Jph3<tm1Hta>,Jph4<tm1Hta>/Jph4<tm1Hta>

http://metadb.riken.jp/0011084I129S4SvJaeC57BL6JJph3tm1HtaJph3tm1HtaJph4tm1HtaJph4tm1HtaJph3tm1HtaJph4tm1Hta

lethality at weaning, incomplete penetrance_Jph3<tm1Hta>/Jph3<tm1Hta>,Jph4<tm1Hta>/Jph4<tm1Hta>

表現型アノテーション

MGI marker

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

• junctophilin 3
  http://metadb.riken.jp/db/mgi_rdf/MGI:1891497
• junctophilin 4
  http://metadb.riken.jp/db/mgi_rdf/MGI:2443113

遺伝子型

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

• Jph3<tm1Hta>/Jph3<tm1Hta>,Jph4<tm1Hta>/Jph4<tm1Hta>

アレルシンボル

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

• Jph3<tm1Hta>|Jph4<tm1Hta>

遺伝的背景

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

• involves: 129S4/SvJae * C57BL/6J

MP annotation

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

• partial lethality at weaning
  http://purl.obolibrary.org/obo/MP_0011084

文献

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

• Shigeki. Moriguchi, et.al., Functional uncoupling between Ca2+ release and afterhyperpolarization in mutant hippocampal neurons lacking junctophilins., Proceedings of the National Academy of Sciences of the United States of America, 2006, 103
  http://rdf.ncbi.nlm.nih.gov/pubmed/16809425