Mouse Genome Informatics
hm
    Asltm1Wjc/Asltm1Wjc
involves: 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• pups die within 48 hours of birth

behavior/neurological
• pups are of normal weight at birth and feed well initially
• pups typically stop feeding within 48 hours of birth
• no observable difference in plasma nitrite concentration
• pups are less active at the time they stop feeding

homeostasis/metabolism
N
• no significant difference in the concentration of cGMP in the urine of mutant mice (J:101658)
• elevated serum levels of argininosuccinic acid, citrulline, and glutamine
• low serum levels of arginine
• arginine is a precursor in the synthesis of creatine via guanidinoacetate; no concentration differences are apparent in pooled skeletal muscle, heart and liver samples of these three compounds
• statistically significant increase in plasma ammonia levels
• reduced levels of arginase activity relative to control liver

Mouse Models of Human Disease
OMIM IDRef(s)
Argininosuccinic Aciduria 207900 J:101658