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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ass1bar
barthez
MGI:4838083
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ass1bar/Ass1bar B6.BAR-Ass1bar MGI:4838089
hm2
Ass1bar/Ass1bar FVB.BAR-Ass1bar MGI:4838087
ht3
Ass1bar/Ass1fold involves: C57BL/6Ei * C57BL/6J * OF1 * P/J MGI:4838091


Genotype
MGI:4838089
hm1
Allelic
Composition
Ass1bar/Ass1bar
Genetic
Background
B6.BAR-Ass1bar
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ass1bar mutation (0 available); any Ass1 mutation (57 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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 lysine and arginine, glutamic acid, leucine, and ornithine levels are decreased
• P14 and P21 mice show a 10- to 40-fold increase in plasma citrulline levels
• 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




Genotype
MGI:4838087
hm2
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 (57 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




Genotype
MGI:4838091
ht3
Allelic
Composition
Ass1bar/Ass1fold
Genetic
Background
involves: C57BL/6Ei * C57BL/6J * OF1 * P/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ass1bar mutation (0 available); any Ass1 mutation (57 available)
Ass1fold mutation (1 available); any Ass1 mutation (57 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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 lysine and arginine, glutamic acid, leucine, and ornithine levels are decreased
• P14 and P21 mice show a 10- to 40-fold increase in plasma citrulline levels
• 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

integument
• enough hair grows in by 3 weeks of age for a sparse coat
• 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
05/10/2022
MGI 6.19
The Jackson Laboratory