Mouse Genome Informatics
hm
    Ass1fold/Ass1fold
B6Ei.P-Ass1fold/GrsrJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Citrullinemia, Classic 215700 J:165341