abnormal nucleotide metabolism_Ampd2<tm1Tm>/Ampd2<tm1Tm>,Ampd3<tm2a(KOMP)Wtsi>/Ampd3<tm2a(KOMP)Wtsi>

http://metadb.riken.jp/0003806I129S2SvPasC57BL6NAmpd2tm1TmAmpd2tm1TmAmpd3tm2aKOMPWtsiAmpd3tm2aKOMPWtsiAmpd3tm2aKOMPWtsiAmpd2tm1Tm

abnormal nucleotide metabolism_Ampd2<tm1Tm>/Ampd2<tm1Tm>,Ampd3<tm2a(KOMP)Wtsi>/Ampd3<tm2a(KOMP)Wtsi>

表現型アノテーション

MGI marker

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

• adenosine monophosphate deaminase 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:88016
• adenosine monophosphate deaminase 3
  http://metadb.riken.jp/db/mgi_rdf/MGI:1096344

遺伝子型

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

• Ampd2<tm1Tm>/Ampd2<tm1Tm>,Ampd3<tm2a(KOMP)Wtsi>/Ampd3<tm2a(KOMP)Wtsi>

アレルシンボル

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

• Ampd3<tm2a(KOMP)Wtsi>|Ampd2<tm1Tm>

遺伝的背景

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

• involves: 129S2/SvPas * C57BL/6N

MP annotation

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

• abnormal nucleotide metabolism
  http://purl.obolibrary.org/obo/MP_0003806

文献

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

• 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