Purkinje cell degeneration_Cacna1a<tm3Hzo>/Cacna1a<tm3Hzo>,Ctsb<tm1Jde>/Ctsb<tm1Jde>

http://metadb.riken.jp/0000876I129P2OlaHsd129SSvEvCacna1atm3HzoCacna1atm3HzoCtsbtm1JdeCtsbtm1JdeCtsbtm1JdeCacna1atm3Hzo

Purkinje cell degeneration_Cacna1a<tm3Hzo>/Cacna1a<tm3Hzo>,Ctsb<tm1Jde>/Ctsb<tm1Jde>

表現型アノテーション

MGI marker

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

• cathepsin B
  http://metadb.riken.jp/db/mgi_rdf/MGI:88561
• 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<tm3Hzo>/Cacna1a<tm3Hzo>,Ctsb<tm1Jde>/Ctsb<tm1Jde>

アレルシンボル

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

• Ctsb<tm1Jde>|Cacna1a<tm3Hzo>

遺伝的背景

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

• involves: 129P2/OlaHsd * 129S/SvEv

MP annotation

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

• Purkinje cell degeneration
  http://purl.obolibrary.org/obo/MP_0000876

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