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Phenotypes Associated with This Genotype
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ass1tm1Bay mutation (1 available); any Ass1 mutation (57 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• homozygous mutant mice stop gaining weight at about 10 hours after birth, and usually die prior to 24 hours after birth

• 16-hr-old homozygous mutant mice display an overall 2- to 4-fold increase in the plasma levels of almost all amino acids
• notably, 16-hr-old homozygous mutant mice display a 30-fold increase in aspartic acid, an effect not observed in humans with citrullinemia
• 16-hr-old homozygous mutant mice display a decreased level of arginine
• 16-hr-old homozygous mutant mice display a significantly higher plasma concentration of citrulline
• 16- to 19-hr-old homozygous mutant mice have a plasma ammonia concentration that is 16 times greater that of wild-type siblings

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
citrullinemia DOID:9273 J:18326

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.17
The Jackson Laboratory