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Phenotypes Associated with This Genotype
Genotype
MGI:3605490
Allelic
Composition
Asltm1Wjc/Asltm1Wjc
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Asltm1Wjc mutation (0 available); any Asl mutation (7 available)
phenotype observed in females
phenotype observed in males
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
• pups are less active at the time they stop feeding
• no observable difference in plasma nitrite concentration

homeostasis/metabolism
N
• no significant difference in the concentration of cGMP in the urine of mutant mice
• 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 ID Ref(s)
Argininosuccinic Aciduria 207900 J:101658


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory