neuron degeneration_Atxn1<tm1Hzo>/Atxn1<+>,Atxn1l<tm1.1Hzo>/Atxn1l<+>

http://metadb.riken.jp/0003224I129S7SvEvBrdC57BL6JAtxn1tm1HzoAtxn1Atxn1ltm11HzoAtxn1lAtxn1lAtxn1tm1HzoAtxn1Atxn1ltm11Hzo

neuron degeneration_Atxn1<tm1Hzo>/Atxn1<+>,Atxn1l<tm1.1Hzo>/Atxn1l<+>

表現型アノテーション

MGI marker

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

• ataxin 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:104783
• ataxin 1-like
  http://metadb.riken.jp/db/mgi_rdf/MGI:3694797

遺伝子型

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

• Atxn1<tm1Hzo>/Atxn1<+>,Atxn1l<tm1.1Hzo>/Atxn1l<+>

アレルシンボル

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

• Atxn1l<+>|Atxn1<tm1Hzo>|Atxn1<+>|Atxn1l<tm1.1Hzo>

遺伝的背景

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

• involves: 129S7/SvEvBrd * C57BL/6J

MP annotation

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

• neuron degeneration
  http://purl.obolibrary.org/obo/MP_0003224

文献

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

• Aaron B. Bowman, et.al., Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes., Nature genetics, 2007, 39
  http://rdf.ncbi.nlm.nih.gov/pubmed/17322884