abnormal erythrocyte osmotic lysis_Ampd3<tm1Tm>/Ampd3<tm1Tm>,Pklr<slc>/Pklr<slc>

http://metadb.riken.jp/0003657ICBANSlcAmpd3tm1TmAmpd3tm1TmPklrslcPklrslcPklrslcAmpd3tm1Tm

abnormal erythrocyte osmotic lysis_Ampd3<tm1Tm>/Ampd3<tm1Tm>,Pklr<slc>/Pklr<slc>

表現型アノテーション

MGI marker

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

• pyruvate kinase liver and red blood cell
  http://metadb.riken.jp/db/mgi_rdf/MGI:97604
• 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

• Ampd3<tm1Tm>/Ampd3<tm1Tm>,Pklr<slc>/Pklr<slc>

アレルシンボル

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

• Pklr<slc>|Ampd3<tm1Tm>

遺伝的背景

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

• involves: CBA/NSlc

MP annotation

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

• abnormal erythrocyte osmotic lysis
  http://purl.obolibrary.org/obo/MP_0003657

文献

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

• Jidong. Cheng, et.al., AMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency., Genes to cells : devoted to molecular & cellular mechanisms, 2012, 17
  http://rdf.ncbi.nlm.nih.gov/pubmed/23078545