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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ass1tm1Bay
targeted mutation 1, Baylor College of Medicine
MGI:1857131
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ass1tm1Bay/Ass1tm1Bay involves: 129S7/SvEvBrd * C57BL/6J MGI:2653766
ht2
Ass1tm1Bay/Ass1+ involves: 129S7/SvEvBrd * C57BL/6J MGI:3033443


Genotype
MGI:2653766
hm1
Allelic
Composition
Ass1tm1Bay/Ass1tm1Bay
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ass1tm1Bay mutation (1 available); any Ass1 mutation (45 available)
phenotype observed in females
phenotype observed in males
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 ID Ref(s)
Citrullinemia, Classic 215700 J:18326




Genotype
MGI:3033443
ht2
Allelic
Composition
Ass1tm1Bay/Ass1+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ass1tm1Bay mutation (1 available); any Ass1 mutation (45 available)
phenotype observed in females
phenotype observed in males
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





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
06/22/2016
MGI 6.04
The Jackson Laboratory