abnormal Purkinje cell morphology_B4galnt1<tm1Rlp>/B4galnt1<tm1Rlp>,Hexb<tm1Rlp>/Hexb<tm1Rlp>

http://metadb.riken.jp/0000877I129S4SvJae129S6SvEvTacC57BL6B4galnt1tm1RlpB4galnt1tm1RlpHexbtm1RlpHexbtm1RlpHexbtm1RlpB4galnt1tm1Rlp

abnormal Purkinje cell morphology_B4galnt1<tm1Rlp>/B4galnt1<tm1Rlp>,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
• beta-1,4-N-acetyl-galactosaminyl transferase 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1342057

遺伝子型

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

• B4galnt1<tm1Rlp>/B4galnt1<tm1Rlp>,Hexb<tm1Rlp>/Hexb<tm1Rlp>

アレルシンボル

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

• Hexb<tm1Rlp>|B4galnt1<tm1Rlp>

遺伝的背景

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

• involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

MP annotation

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

• abnormal Purkinje cell morphology
  http://purl.obolibrary.org/obo/MP_0000877

文献

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

• Y. Liu, et.al., A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder., The Journal of clinical investigation, 1999, 103
  http://rdf.ncbi.nlm.nih.gov/pubmed/10021458