ataxia_Cacna1a<tm2.1Kewa>/Cacna1a<+>

http://metadb.riken.jp/0001393B6CgCacna1atm21KewaCacna1atm21KewaCacna1aCacna1aCacna1atm21Kewa

ataxia_Cacna1a<tm2.1Kewa>/Cacna1a<+>

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<tm2.1Kewa>/Cacna1a<+>

アレルシンボル

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

• Cacna1a<+>|Cacna1a<tm2.1Kewa>

遺伝的背景

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

• B6.Cg-Cacna1a<tm2.1Kewa>

MP annotation

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

• ataxia
  http://purl.obolibrary.org/obo/MP_0001393

文献

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

• Toshinori. Unno, et.al., Development of Purkinje cell degeneration in a knockin mouse model reveals lysosomal involvement in the pathogenesis of SCA6., Proceedings of the National Academy of Sciences of the United States of America, 2012, 109
  http://rdf.ncbi.nlm.nih.gov/pubmed/23054835