Owen M. Siggs, et.al., Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity., Proceedings of the National Academy of Sciences of the United States of America, 2016, 113

http://rdf.ncbi.nlm.nih.gov/pubmed/27303042

Owen M. Siggs, et.al., Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity., Proceedings of the National Academy of Sciences of the United States of America, 2016, 113

pubmed

allele

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

• Fnip1<m1Btlr>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5806459

表現型アノテーション

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

• enlarged heart_Fnip1<m1Btlr>/Fnip1<m1Btlr>
  http://metadb.riken.jp/0000274C57BL6JFnip1m1BtlrFnip1m1BtlrFnip1m1BtlrFnip1m1Btlr
• abnormal bone marrow cell number_Fnip1<m1Btlr>/Fnip1<m1Btlr>
  http://metadb.riken.jp/0000172C57BL6JFnip1m1BtlrFnip1m1BtlrFnip1m1BtlrFnip1m1Btlr
• absent B cells_Atg3<tm1.1Ywh>/Atg3<tm1.1Ywh>,Fnip1<m1Btlr>/Fnip1<m1Btlr>,Gt(ROSA)26Sor<tm1(cre/ERT)Nat>/Gt(ROSA)26Sor<+>
  http://metadb.riken.jp/0008071I129SSvEv129S1Sv129X1SvJC57BL6JAtg3tm11YwhAtg3tm11YwhFnip1m1BtlrFnip1m1BtlrGtROSA26Sortm1creERTNatGtROSA26SorGtROSA26Sortm1creERTNatGtROSA26SorAtg3tm11YwhFnip1m1Btlr
• decreased IgM level_Fnip1<m1Btlr>/Fnip1<m1Btlr>
  http://metadb.riken.jp/0001806C57BL6JFnip1m1BtlrFnip1m1BtlrFnip1m1BtlrFnip1m1Btlr
• decreased marginal zone B cell number_Fnip1<m1Btlr>/Fnip1<m1Btlr>
  http://metadb.riken.jp/0008182C57BL6JFnip1m1BtlrFnip1m1BtlrFnip1m1BtlrFnip1m1Btlr
• absent B cells_Fnip1<m1Btlr>/Fnip1<m1Btlr>
  http://metadb.riken.jp/0008071C57BL6JFnip1m1BtlrFnip1m1BtlrFnip1m1BtlrFnip1m1Btlr
• abnormal autophagy_Atg3<tm1.1Ywh>/Atg3<tm1.1Ywh>,Fnip1<m1Btlr>/Fnip1<m1Btlr>,Gt(ROSA)26Sor<tm1(cre/ERT)Nat>/Gt(ROSA)26Sor<+>
  http://metadb.riken.jp/0008260I129SSvEv129S1Sv129X1SvJC57BL6JAtg3tm11YwhAtg3tm11YwhFnip1m1BtlrFnip1m1BtlrGtROSA26Sortm1creERTNatGtROSA26SorGtROSA26Sortm1creERTNatGtROSA26SorAtg3tm11YwhFnip1m1Btlr
• abnormal skeletal muscle morphology_Fnip1<m1Btlr>/Fnip1<m1Btlr>
  http://metadb.riken.jp/0000759C57BL6JFnip1m1BtlrFnip1m1BtlrFnip1m1BtlrFnip1m1Btlr
• increased cardiac muscle glycogen level_Fnip1<m1Btlr>/Fnip1<m1Btlr>
  http://metadb.riken.jp/0014071C57BL6JFnip1m1BtlrFnip1m1BtlrFnip1m1BtlrFnip1m1Btlr
• prolonged QRS complex duration_Fnip1<m1Btlr>/Fnip1<m1Btlr>
  http://metadb.riken.jp/0010392C57BL6JFnip1m1BtlrFnip1m1BtlrFnip1m1BtlrFnip1m1Btlr
• impaired hematopoiesis_Fnip1<m1Btlr>/Fnip1<m1Btlr>
  http://metadb.riken.jp/0001606C57BL6JFnip1m1BtlrFnip1m1BtlrFnip1m1BtlrFnip1m1Btlr
• abnormal splenocyte morphology_Fnip1<m1Btlr>/Fnip1<m1Btlr>
  http://metadb.riken.jp/0009332C57BL6JFnip1m1BtlrFnip1m1BtlrFnip1m1BtlrFnip1m1Btlr
• cardiac hypertrophy_Fnip1<m1Btlr>/Fnip1<m1Btlr>
  http://metadb.riken.jp/0001625C57BL6JFnip1m1BtlrFnip1m1BtlrFnip1m1BtlrFnip1m1Btlr
• abnormal autophagy_Fnip1<m1Btlr>/Fnip1<m1Btlr>
  http://metadb.riken.jp/0008260C57BL6JFnip1m1BtlrFnip1m1BtlrFnip1m1BtlrFnip1m1Btlr
• shortened PR interval_Fnip1<m1Btlr>/Fnip1<m1Btlr>
  http://metadb.riken.jp/0010511C57BL6JFnip1m1BtlrFnip1m1BtlrFnip1m1BtlrFnip1m1Btlr

class

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

• Fnip1<m1Btlr>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5806459