Mice homozygous for the Ass1tm1Bay mutation have an increased concentration of plasma ammonia, a significantly higher plasma concentration of citrulline, and decreased level of arginine. The phenotype of these mutant mice closely resembles the inherited citrullinemia disease in humans.
Dr. Allan Bradley, Baylor College of Medicine
Mice homozygous for the Ass1tm1Bay 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.
The Ass1tm1Bay 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.
|Allele Name||targeted mutation 1, Baylor College of Medicine|
|Allele Type||Targeted (Null/Knockout)|
|Gene Symbol and Name||Ass1, argininosuccinate synthetase 1|
|Strain of Origin||129S7/SvEvBrd-Hprt+|
|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.|
|Mutations Made By|| |
Dr. Gerald Patejunas, Evanston NW Healthcare Research Inst
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.
When using the B6;129S7-Ass1tm1Bay/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #002189 in your Materials and Methods section.