These Ada knock-out mice exhibit perinatal lethality with and liver cell degeneration and defects in purine metabolism. They may be suitable for use in applications related to the study of severe combined immune deficiency in humans.
Dr. Maki Wakamiya, Baylor College of Medicine
Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Ada | adenosine deaminase |
Mice homozygous for the Adatm1Mw targeted mutation die perinatally. They show defects in purine metabolism and have liver cell degeneration. Death is most likely the result of accumulation of ADA precursors. Mice from the double mutant strain FVB;129- Adatm1Mw-TgN(PLADA)4118Rkmb/J (Stock No. 003265) are rescued from embryonic lethality by transgenic ADA expression in the placenta. Rescued mice that are homozygous for the null Ada allele exhibit a severe combined immunodeficiency. In addition, mice develop a severe lung eosinopilia reminescent of that seen in humans with asthma. Abnormalities were also found in the bone and kidney. ADA deficient mice die from severe respiratory distress by three weeks of age. Mice carrying a transgene overexpressiong ADA in both the placenta and forestomach, FVB;129- Adatm1Mw-TgN(PLFSADA)2465Rkmb/J (Stock No. 003297), are rescued from postnatal lethality at three weeks of age. Rescued mice that are homozygous for the null Ada allele live a normal lifespan displaying only a partial immune deficiency and developing less severe pulmonary inflammation.
Allele Name | targeted mutation 1, Maki Wakamiya |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | Ada-; adam1 |
Gene Symbol and Name | Ada, adenosine deaminase |
Gene Synonym(s) | |
Strain of Origin | 129S7/SvEvBrd-Hprt+ |
Chromosome | 2 |
General Note | Phenotypic Similarity to Human Syndrome: Pulmonary Hypertension associated with Chronic Obstructive Pulmonary Disease J: 231559. |
Molecular Note | A neomycin selection cassette was inserted into exon 5. Activity assays demonstrated that no functional protein was made from this allele in homozygous mice. |
Mutations Made By | Dr. Maki Wakamiya, Baylor College of Medicine |
When maintained in a live colony, the strain is maintained by mating heterozygous mutant mice with wildtype siblings.
When using the ADA KO mouse strain in a publication, please cite the originating article(s) and include JAX stock #002493 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or Wild-type for Ada<tm1Mw> |
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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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