dystonia_Cacna1a<tg-la>/Cacna1a<Wb>

http://metadb.riken.jp/0005323IAKRJC3HHeJC57BL6JCacna1atglaCacna1aWbCacna1atglaCacna1aWb

dystonia_Cacna1a<tg-la>/Cacna1a<Wb>

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<tg-la>/Cacna1a<Wb>

アレルシンボル

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

• Cacna1a<tg-la>|Cacna1a<Wb>

遺伝的背景

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

• involves: AKR/J * C3H/HeJ * C57BL/6J

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

• G. Xie, et.al., Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A., Genes, brain, and behavior, 2007, 6
  http://rdf.ncbi.nlm.nih.gov/pubmed/17376154