Mouse Genome Informatics
hm1
    Ass1tm1Bay/Ass1tm1Bay
involves: 129S7/SvEvBrd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• homozygous mutant mice stop gaining weight at about 10 hours after birth, and usually die prior to 24 hours after birth

homeostasis/metabolism
• 16-hr-old homozygous mutant mice display a significantly higher plasma concentration of citrulline and a decreased level of arginine
• 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- 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
OMIM IDRef(s)
Citrullinemia, Classic 215700 J:18326


Mouse Genome Informatics
ht2
    Ass1tm1Bay/Ass1+
involves: 129S7/SvEvBrd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• 16-hr-old heterozygous mutant mice display a 2-fold increase in the plasma citrulline level over that detected in wild-type siblings, an effect not observed in humans or in cattle with citrullinemia
• 16-hr-old heterozygous mutant mice have normal plasma concentrations of other amino acids