omphalocele_Atxn1<tm1Hzo>/Atxn1<+>,Atxn1l<tm2.1Hzo>/Atxn1l<tm2.1Hzo>

http://metadb.riken.jp/0003052I129S7SvEvBrdC57BL6JAtxn1tm1HzoAtxn1Atxn1ltm21HzoAtxn1ltm21HzoAtxn1ltm21HzoAtxn1Atxn1tm1Hzo

omphalocele_Atxn1<tm1Hzo>/Atxn1<+>,Atxn1l<tm2.1Hzo>/Atxn1l<tm2.1Hzo>

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<tm2.1Hzo>/Atxn1l<tm2.1Hzo>

アレルシンボル

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

• Atxn1l<tm2.1Hzo>|Atxn1<+>|Atxn1<tm1Hzo>

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

• omphalocele
  http://purl.obolibrary.org/obo/MP_0003052

文献

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

• Yoontae. Lee, et.al., ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization., Developmental cell, 2011, 21
  http://rdf.ncbi.nlm.nih.gov/pubmed/22014525