Purkinje cell degeneration_Sptbn2<tm1Mjac>/Sptbn2<tm1Mjac>

http://metadb.riken.jp/0000876B6129P2Sptbn2tm1MjacSptbn2tm1MjacSptbn2tm1MjacSptbn2tm1Mjac

Purkinje cell degeneration_Sptbn2<tm1Mjac>/Sptbn2<tm1Mjac>

表現型アノテーション

MGI marker

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

• spectrin beta, non-erythrocytic 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1313261

遺伝子型

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

• Sptbn2<tm1Mjac>/Sptbn2<tm1Mjac>

アレルシンボル

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

• Sptbn2<tm1Mjac>

遺伝的背景

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

• B6.129P2-Sptbn2<tm1Mjac>

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

• Emma M. Perkins, et.al., Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans., The Journal of neuroscience : the official journal of the Society for Neuroscience, 2010, 30
  http://rdf.ncbi.nlm.nih.gov/pubmed/20371805