Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Mutant Stock; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation +N1 Generation Definitions   Donating Investigator Allan Bradley,   Baylor College of Medicine

Description
Mice homozygous for the Ass1^tm1Bay mutation stop gaining weight at about 10 hours after birth and usually die prior to 24 hours after birth. They have a plasma ammonia concentration of 2670 microM, 16 times greater than normal siblings. There is a significantly higher plasma concentration of citrulline and decreased level of arginine. This corresponds to the human disease. There is an overall 2 to 4 fold increase in the plasma levels of almost all amino acids, an effect not found in the human disease. Heterozygous mice are healthy and develop normally. They do, however, have a 2-fold increase in the plasma citrulline level over that seen in normal siblings.

Development
The Ass1^tm1Bay mutant strain was developed by Dr. Gerald Patejunas in the laboratory of Dr. William O'Brien at Baylor College of Medicine. The 129-derived AB-1 ES cell line was used.

Control Information

	Control
	Wild-type from the colony
	101045 B6129SF2/J	(approximate)
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Ass1

006449

B6Ei.P-Ass1fold/GrsrJ

View Strains carrying other alleles of Ass1     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

Citrullinemia, Classic - Models with phenotypic similarity to human disease where etiologies involve orthologs.1

1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Ass1^tm1Bay/Ass1⁺

        involves: 129S7/SvEvBrd * C57BL/6J

• homeostasis/metabolism phenotype
• abnormal circulating amino acid level
  • 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   (MGI Ref ID J:18326)
  • 16-hr-old heterozygous mutant mice have normal plasma concentrations of other amino acids   (MGI Ref ID J:18326)

Ass1^tm1Bay/Ass1^tm1Bay

        involves: 129S7/SvEvBrd * C57BL/6J

• mortality/aging
• complete neonatal lethality
  • homozygous mutant mice stop gaining weight at about 10 hours after birth, and usually die prior to 24 hours after birth   (MGI Ref ID J:18326)
• homeostasis/metabolism phenotype
• abnormal circulating amino acid level
  • 16-hr-old homozygous mutant mice display a significantly higher plasma concentration of citrulline and a decreased level of arginine   (MGI Ref ID J:18326)
  • 16-hr-old homozygous mutant mice display an overall 2- to 4-fold increase in the plasma levels of almost all amino acids   (MGI Ref ID J:18326)
  • notably, 16-hr-old homozygous mutant mice display a 30-fold increase in aspartic acid, an effect not observed in humans with citrullinemia   (MGI Ref ID J:18326)
• increased circulating ammonia level
  • 16- to 19-hr-old homozygous mutant mice have a plasma ammonia concentration that is 16 times greater that of wild-type siblings   (MGI Ref ID J:18326)

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Ass1^tm1Bay related

Metabolism Research

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Ass1tm1Bay
Allele Name		targeted mutation 1, Baylor College of Medicine
Allele Type		Targeted (knock-out)
Mutation Made By		Gerald Patejunas,   Evanston NW Healthcare Research Inst
Strain of Origin		129S7/SvEvBrd-Hprt<+>
ES Cell Line Name		AB1
ES Cell Line Strain		129S7/SvEvBrd-Hprt<+>
Gene Symbol and Name		Ass1, argininosuccinate synthetase 1
Chromosome		2
Gene Common Name(s)		AA408052; ASS; ASSA; Ass-1; CTLN1; arginosuccinate synthetase 1; expressed sequence AA408052; fold; follicular dystrophy;
Molecular Note		A neomycin resistance cassette was inserted into exon 4 of the gene. Activity assays in liver extracts from homozygous mice demostrated the absence of the functional protein. [MGI Ref ID J:18326]

Genotyping

Genotyping Information

Genotyping Protocols

Ass1^tm1Bay STD PCR, Standard PCR
NEOTD (Generic Neo), Standard PCR

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Patejunas G; Bradley A; Beaudet AL; O'Brien WE. 1994. Generation of a mouse model for citrullinemia by targeted disruption of the argininosuccinate synthetase gene. Somat Cell Mol Genet 20(1):55-60. [PubMed: 8197477]  [MGI Ref ID J:18326]

Additional References

Ass1^tm1Bay related

Deignan JL; Cederbaum SD; Grody WW. 2008. Contrasting features of urea cycle disorders in human patients and knockout mouse models. Mol Genet Metab 93(1):7-14. [PubMed: 17933574]  [MGI Ref ID J:130077]

Ye X; Whiteman B; Jerebtsova M; Batshaw ML. 2000. Correction of argininosuccinate synthetase (AS) deficiency in a murine model of citrullinemia with recombinant adenovirus carrying human AS cDNA. Gene Ther 7(20):1777-82. [PubMed: 11083500]  [MGI Ref ID J:88767]

Health & husbandry

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, RG10/RG30.

Colony Maintenance

Breeding & Husbandry	The Ass1tm1Bay strain is maintained by mating heterozygous mice and normal wildtype siblings. It has been cryopreserved and is currently only available from the cyropreservation repository.
Diet Information	LabDiet® 5K52/5K67

Purchasing information

Pricing, Supply Level & Notes, Controls

General Supply Notes

• This strain is included in the Induced Mutant Resource Colony collection.
• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Wild-type from the colony
	101045 B6129SF2/J	(approximate)
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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