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Phenotypes Associated with This Genotype
Genotype
MGI:4838087
Allelic
Composition
Ass1bar/Ass1bar
Genetic
Background
FVB.BAR-Ass1bar
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ass1bar mutation (0 available); any Ass1 mutation (58 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

growth/size/body

behavior/neurological
• unstable gait
• after P15

homeostasis/metabolism
• P14 and P21 mice show a 10- to 40-fold increase in the levels of citrulline, and a 1.5- to threefold increase in the plasma levels of many amino acids, including glutamine, cystine, methionine, and lysine and lysine and arginine, glutamic acid, leucine, and ornithine levels are decreased
• Plasma ammonia concentration at P14 is elevated
• argininosuccinate synthetase 1 activity is significantly decreased in liver

nervous system
• granule cell migration appears to be delayed by several days
• show disorganization and low density and shortening

integument
• generalized during first 3 weeks of life
• follicular dystrophy

cellular
• granule cell migration appears to be delayed by several days

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
citrullinemia DOID:9273 J:165341


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
11/12/2024
MGI 6.24
The Jackson Laboratory