dystonia_Cacna1a<tm2.1(CACNA1A)Ttan>/Cacna1a<tm2.1(CACNA1A)Ttan>

http://metadb.riken.jp/0005323I129S4SvJaeC57BL6C57BL6JSJLCacna1atm21CACNA1ATtanCacna1atm21CACNA1ATtanCacna1atm21CACNA1ATtan

dystonia_Cacna1a<tm2.1(CACNA1A)Ttan>/Cacna1a<tm2.1(CACNA1A)Ttan>

表現型アノテーション

MGI marker

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

• calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
  http://metadb.riken.jp/db/mgi_rdf/MGI:109482

遺伝子型

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

• Cacna1a<tm2.1(CACNA1A)Ttan>/Cacna1a<tm2.1(CACNA1A)Ttan>

アレルシンボル

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

• Cacna1a<tm2.1(CACNA1A)Ttan>

遺伝的背景

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

• involves: 129S4/SvJae * C57BL/6 * C57BL/6J * SJL

MP annotation

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

• dystonia
  http://purl.obolibrary.org/obo/MP_0005323

文献

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

• Hironao. Saegusa, et.al., Properties of human Cav2.1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cells., Molecular and cellular neurosciences, 2007, 34
  http://rdf.ncbi.nlm.nih.gov/pubmed/17188510