Naiara. Akizu, et.al., AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder., Cell, 2013, 154

http://rdf.ncbi.nlm.nih.gov/pubmed/23911318

Naiara. Akizu, et.al., AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder., Cell, 2013, 154

pubmed

表現型アノテーション

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

• postnatal lethality, complete penetrance_Ampd2<tm1Tm>/Ampd2<tm1Tm>,Ampd3<tm2a(KOMP)Wtsi>/Ampd3<tm2a(KOMP)Wtsi>
  http://metadb.riken.jp/0011085I129S2SvPasC57BL6NAmpd2tm1TmAmpd2tm1TmAmpd3tm2aKOMPWtsiAmpd3tm2aKOMPWtsiAmpd3tm2aKOMPWtsiAmpd2tm1Tm
• abnormal nucleotide metabolism_Ampd2<tm1Tm>/Ampd2<tm1Tm>,Ampd3<tm2a(KOMP)Wtsi>/Ampd3<tm2a(KOMP)Wtsi>
  http://metadb.riken.jp/0003806I129S2SvPasC57BL6NAmpd2tm1TmAmpd2tm1TmAmpd3tm2aKOMPWtsiAmpd3tm2aKOMPWtsiAmpd3tm2aKOMPWtsiAmpd2tm1Tm
• neurodegeneration_Ampd2<tm1Tm>/Ampd2<tm1Tm>,Ampd3<tm2a(KOMP)Wtsi>/Ampd3<tm2a(KOMP)Wtsi>
  http://metadb.riken.jp/0002229I129S2SvPasC57BL6NAmpd2tm1TmAmpd2tm1TmAmpd3tm2aKOMPWtsiAmpd3tm2aKOMPWtsiAmpd3tm2aKOMPWtsiAmpd2tm1Tm
• abnormal gait_Ampd2<tm1Tm>/Ampd2<tm1Tm>,Ampd3<tm2a(KOMP)Wtsi>/Ampd3<tm2a(KOMP)Wtsi>
  http://metadb.riken.jp/0001406I129S2SvPasC57BL6NAmpd2tm1TmAmpd2tm1TmAmpd3tm2aKOMPWtsiAmpd3tm2aKOMPWtsiAmpd3tm2aKOMPWtsiAmpd2tm1Tm
• decreased body weight_Ampd2<tm1Tm>/Ampd2<tm1Tm>,Ampd3<tm2a(KOMP)Wtsi>/Ampd3<tm2a(KOMP)Wtsi>
  http://metadb.riken.jp/0001262I129S2SvPasC57BL6NAmpd2tm1TmAmpd2tm1TmAmpd3tm2aKOMPWtsiAmpd3tm2aKOMPWtsiAmpd3tm2aKOMPWtsiAmpd2tm1Tm