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Phenotypes Associated with This Genotype
Genotype
MGI:3707513
Allelic
Composition
Ass1fold/Ass1fold
Genetic
Background
B6Ei.P-Ass1fold/GrsrJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ass1fold mutation (1 available); any Ass1 mutation (45 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Small body size, lack of hair, and wrinkled skin in one week old Ass1fold/Ass1fold(right) mice

mortality/aging

growth/size/body

behavior/neurological
• unstable gait

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 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

cellular
• granule cell migration appears to be delayed by several days
• decreased immunohistochemical staining for nitrotyrosine in cerebellum compared to wild-type , correlating with decreased superoxide or NO radical formation

integument
• enough hair grows in by 3 weeks of age for a sparse coat
• follicular dystrophy

Mouse Models of Human Disease
OMIM ID Ref(s)
Citrullinemia, Classic 215700 J:165341


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
06/15/2016
MGI 6.04
The Jackson Laboratory