neonatal lethality, complete penetrance_Atxn7<tm1Hzo>/Atxn7<+>,Kat2a<tm3Roth>/Kat2a<tm3Roth>

http://metadb.riken.jp/0011087I129129S7SvEvBrdAtxn7tm1HzoAtxn7Kat2atm3RothKat2atm3RothKat2atm3RothAtxn7tm1HzoAtxn7

neonatal lethality, complete penetrance_Atxn7<tm1Hzo>/Atxn7<+>,Kat2a<tm3Roth>/Kat2a<tm3Roth>

表現型アノテーション

MGI marker

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

• K(lysine) acetyltransferase 2A
  http://metadb.riken.jp/db/mgi_rdf/MGI:1343101
• 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<+>,Kat2a<tm3Roth>/Kat2a<tm3Roth>

アレルシンボル

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

• Kat2a<tm3Roth>|Atxn7<tm1Hzo>|Atxn7<+>

遺伝的背景

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

• involves: 129 * 129S7/SvEvBrd

MP annotation

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

• complete neonatal lethality
  http://purl.obolibrary.org/obo/MP_0011087

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