Purkinje cell degeneration_Hexb<tm1Rlp>/Hexb<tm1Rlp>

http://metadb.riken.jp/0000876I129P2OlaHsd129S4SvJaeC57BL6Hexbtm1RlpHexbtm1RlpHexbtm1Rlp

Purkinje cell degeneration_Hexb<tm1Rlp>/Hexb<tm1Rlp>

表現型アノテーション

MGI marker

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

• hexosaminidase B
  http://metadb.riken.jp/db/mgi_rdf/MGI:96074

遺伝子型

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

• Hexb<tm1Rlp>/Hexb<tm1Rlp>

アレルシンボル

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

• Hexb<tm1Rlp>

遺伝的背景

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

• involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

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

• Akira. Yamaguchi, et.al., Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses., The Journal of clinical investigation, 2004, 113
  http://rdf.ncbi.nlm.nih.gov/pubmed/14722612