blepharoptosis_Atxn7<tm1Hzo>/Atxn7<+>

http://metadb.riken.jp/0001344I129S7SvEvBrdAtxn7tm1HzoAtxn7Atxn7Atxn7tm1Hzo

blepharoptosis_Atxn7<tm1Hzo>/Atxn7<+>

表現型アノテーション

MGI marker

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

• ataxin 7
  http://metadb.riken.jp/db/mgi_rdf/MGI:2179277

遺伝子型

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

• Atxn7<tm1Hzo>/Atxn7<+>

アレルシンボル

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

• Atxn7<+>|Atxn7<tm1Hzo>

遺伝的背景

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

• involves: 129S7/SvEvBrd

MP annotation

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

• blepharoptosis
  http://purl.obolibrary.org/obo/MP_0001344

文献

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

• Yi Chun. Chen, et.al., Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model., Human molecular genetics, 2012, 21
  http://rdf.ncbi.nlm.nih.gov/pubmed/22002997