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Former Names FVB,129-Adatm1Mw-TgN(PLADA)4118Rkmb (Changed: 15-DEC-04 ) Type Mutant Stock; Targeted Mutation; Transgenic; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Generation F?+7p Donating Investigator Michael Blackburn, Univ Texas Health Science Center Description
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 Tg(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 eosinophilia 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 Tg(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.
| Control | ||
|---|---|---|
| Noncarrier | ||
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
Strains carrying Adatm1Mw allele
003297 FVB;129-Adatm1Mw Tg(PLFSADA)2465Rkmb/J 002493 STOCK Adatm1Mw/J View Strains carrying Adatm1Mw (2 strains)
View Related Disease (OMIM) Terms
Related Disease (OMIM) Terms
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency - 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
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Adatm1Mw/Adatm1Mw Tg(PLADA)4118Rkmb/0
involves: 129S7/SvEvBrd * C57BL/6
- lethality-postnatal
- postnatal lethality (MGI Ref ID J:73418)
- death by 3 weeks of age
- hematopoietic system phenotype
- abnormal spleen red pulp morphology (MGI Ref ID J:73418)
- with decreased numbers of red blood cells and few megakaryocytes observed
- abnormal thymus cellularity (MGI Ref ID J:73418)
- with substantially reduced lymphoid cell counts
- abnormal thymus lobule morphology (MGI Ref ID J:73418)
- with decreased cortical-medullary demarcation
- anemia (MGI Ref ID J:73418)
- decreased leukocyte cell number (MGI Ref ID J:73418)
- decreased double-positive T cell number (MGI Ref ID J:73418)
- in both thymus and spleen
- increased double-negative T cell number (MGI Ref ID J:73418)
- in thymus
- increased granulocyte number (MGI Ref ID J:73418)
- increased eosinophil cell number (MGI Ref ID J:73418)
- increased macrophage cell number (MGI Ref ID J:73418)
- small spleen (MGI Ref ID J:73418)
- spleen hypoplasia (MGI Ref ID J:73418)
- lymphoid counts substantially reduced
- small thymus (MGI Ref ID J:73418)
- immune system phenotype
- abnormal spleen red pulp morphology (MGI Ref ID J:73418)
- with decreased numbers of red blood cells and few megakaryocytes observed
- abnormal thymus cellularity (MGI Ref ID J:73418)
- with substantially reduced lymphoid cell counts
- abnormal thymus lobule morphology (MGI Ref ID J:73418)
- with decreased cortical-medullary demarcation
- decreased immunoglobulin level (MGI Ref ID J:73418)
- decreased leukocyte cell number (MGI Ref ID J:73418)
- decreased double-positive T cell number (MGI Ref ID J:73418)
- in both thymus and spleen
- increased double-negative T cell number (MGI Ref ID J:73418)
- in thymus
- increased granulocyte number (MGI Ref ID J:73418)
- increased eosinophil cell number (MGI Ref ID J:73418)
- increased macrophage cell number (MGI Ref ID J:73418)
- lung inflammation (MGI Ref ID J:73418)
- evidence of inflammatory cells, thickening and shedding of airway epithelium and occlusion of airways with mucous and cellular debris
- small spleen (MGI Ref ID J:73418)
- spleen hypoplasia (MGI Ref ID J:73418)
- lymphoid counts substantially reduced
- small thymus (MGI Ref ID J:73418)
- renal/urinary system phenotype
- abnormal renal glomerulus morphology (MGI Ref ID J:73418)
- increased red blood cells within glomeruli
- abnormal renal tubule morphology (MGI Ref ID J:73418)
- increased red blood cells within convoluted tubules
- respiratory system phenotype
- lung inflammation (MGI Ref ID J:73418)
- evidence of inflammatory cells, thickening and shedding of airway epithelium and occlusion of airways with mucous and cellular debris
- tachypnea (MGI Ref ID J:73418)
- evident beginning at postnatal day 12 and progressively labored breathing until death
- skeleton phenotype
- abnormal rib morphology (MGI Ref ID J:73418)
- enlarged costochondral junctions
- severe rib curvature
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:Adatm1Mw related
Developmental Biology Research
Internal/Organ Defects
Immunology and Inflammation Research
Immunodeficiency
Inflammation (Asthma)
Internal/Organ Research
Liver Defects
Metabolism Research
| Allele Symbol | Adatm1Mw | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, Maki Wakamiya | ||
| Allele Type | Targeted (knock-out) | ||
| Common Name(s) | Ada-; adam1; | ||
| Mutation Made By | Maki Wakamiya, Baylor College of Medicine | ||
| Strain of Origin | 129S7/SvEvBrd-Hprt1<+> | ||
| ES Cell Line Name | AB1 | ||
| ES Cell Line Strain | 129S7/SvEvBrd-Hprt1<+> | ||
| Gene Symbol and Name | Ada, adenosine deaminase | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | MGC108610; | ||
| 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. [MGI Ref ID J:25085] | ||
| Allele Symbol | Tg(PLADA)4118Rkmb | ||
| Allele Name | transgene insertion 4118, Michael R Blackburn | ||
| Allele Type | Transgenic (random, expressed) | ||
| Mutation Made By | Michael Blackburn, Univ Texas Health Science Center | ||
| Expressed Gene | Ada, adenosine deaminase, mouse, laboratory | ||
| Molecular Note | A construct was made that contained the endogenous polyadenylation sequence, intron 11, and ~2kb of of the 3' flanking region of the gene. The endogenous promoter was replaced with a promoter containing a 36-bp deletion in the 5'-untranslated region and770-bp trophoblast regulatory element. This resulted in a construct that allowed expression in the placenta prenatally only, while the 36-bp deletion in the promoter allowed distinction of this transcript from that of native transcript. Enzymatic activity of the protein product was not detected in any of the tissues tested at postnatal day 17 in transgenic mice. [MGI Ref ID J:73418] | ||
Genotyping Protocols
Adatm1Mw, STD PCR, vers. 1
Tg(PLADA)4118Rkmb, Tg(PLFSADA)2465Rkmb, STD PCR, vers. 1
Helpful Links
Optimizing PCR Protocols
Blackburn MR; Datta SK; Kellems RE. 1998. Adenosine deaminase-deficient mice generated using a two-stage genetic engineering strategy exhibit a combined immunodeficiency. J Biol Chem 273(9):5093-100. [PubMed: 9478961] [MGI Ref ID J:73418]
Shi D; Winston JH; Blackburn MR; Datta SK; Hanten G; Kellems RE. 1997. Diverse genetic regulatory motifs required for murine adenosine deaminase gene expression in the placenta. J Biol Chem 272(4):2334-41. [PubMed: 8999942] [MGI Ref ID J:38454]
Wakamiya M; Blackburn MR; Jurecic R; McArthur MJ; Geske RS; Cartwright J Jr; Mitani K; Vaishnav S; Belmont JW; Kellems RE; Finegold MJ; Montgomery Jr CA; Bradley A; Caskey CT.. 1995. Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice. Proc Natl Acad Sci U S A 92(9):3673-7. [PubMed: 7731963] [MGI Ref ID J:25085]
Adatm1Mw relatedTg(PLADA)4118Rkmb relatedAldrich MB; Chen W; Blackburn MR; Martinez-Valdez H; Datta SK; Kellems RE. 2003. Impaired germinal center maturation in adenosine deaminase deficiency. J Immunol 171(10):5562-70. [PubMed: 14607964] [MGI Ref ID J:106733]
Apasov S; Chen JF; Smith P; Sitkovsky M. 2000. A(2A) receptor dependent and A(2A) receptor independent effects of extracellular adenosine on murine thymocytes in conditions of adenosine deaminase deficiency Blood 95(12):3859-67. [PubMed: 10845921] [MGI Ref ID J:63086]
Apasov SG; Blackburn MR; Kellems RE; Smith PT; Sitkovsky MV. 2001. Adenosine deaminase deficiency increases thymic apoptosis and causes defective T cell receptor signaling. J Clin Invest 108(1):131-41. [PubMed: 11435465] [MGI Ref ID J:110739]
Banerjee SK; Young HW; Barczak A; Erle DJ; Blackburn MR. 2004. Abnormal alveolar development associated with elevated adenine nucleosides. Am J Respir Cell Mol Biol 30(1):38-50. [PubMed: 12855405] [MGI Ref ID J:95133]
Blackburn MR; Datta SK; Wakamiya M; Vartabedian BS; Kellems RE. 1996. Metabolic and immunologic consequences of limited adenosine deaminase expression in mice. J Biol Chem 271(25):15203-10. [PubMed: 8663040] [MGI Ref ID J:96688]
Blackburn MR; Knudsen TB; Kellems RE. 1997. Genetically engineered mice demonstrate that adenosine deaminase is essential for early postimplantation development. Development 124(16):3089-97. [PubMed: 9272950] [MGI Ref ID J:42444]
Blackburn MR; Volmer JB; Thrasher JL; Zhong H; Crosby JR; Lee JJ; Kellems RE. 2000. Metabolic consequences of adenosine deaminase deficiency in mice are associated with defects in alveogenesis, pulmonary inflammation, and airway obstruction J Exp Med 192(2):159-70. [PubMed: 10899903] [MGI Ref ID J:63493]
Blackburn MR; Wakamiya M; Caskey CT; Kellems RE. 1995. Tissue-specific rescue suggests that placental adenosine deaminase is important for fetal development in mice. J Biol Chem 270(41):23891-4. [PubMed: 7592575] [MGI Ref ID J:29350]
Chunn JL; Mohsenin A; Young HW; Lee CG; Elias JA; Kellems RE; Blackburn MR. 2006. Partially adenosine deaminase-deficient mice develop pulmonary fibrosis in association with adenosine elevations. Am J Physiol Lung Cell Mol Physiol 290(3):L579-87. [PubMed: 16258000] [MGI Ref ID J:107355]
Chunn JL; Molina JG; Mi T; Xia Y; Kellems RE; Blackburn MR. 2005. Adenosine-dependent pulmonary fibrosis in adenosine deaminase-deficient mice. J Immunol 175(3):1937-46. [PubMed: 16034138] [MGI Ref ID J:107266]
Chunn JL; Young HW; Banerjee SK; Colasurdo GN; Blackburn MR. 2001. Adenosine-dependent airway inflammation and hyperresponsiveness in partially adenosine deaminase-deficient mice. J Immunol 167(8):4676-85. [PubMed: 11591798] [MGI Ref ID J:72057]
Fernandez P; Trzaska S; Wilder T; Chiriboga L; Blackburn MR; Cronstein BN; Chan ES. 2008. Pharmacological blockade of A2A receptors prevents dermal fibrosis in a model of elevated tissue adenosine. Am J Pathol 172(6):1675-82. [PubMed: 18467695] [MGI Ref ID J:136216]
Mi T; Abbasi S; Zhang H; Uray K; Chunn JL; Xia LW; Molina JG; Weisbrodt NW; Kellems RE; Blackburn MR; Xia Y. 2008. Excess adenosine in murine penile erectile tissues contributes to priapism via A2B adenosine receptor signaling. J Clin Invest 118(4):1491-501. [PubMed: 18340377] [MGI Ref ID J:135978]
Mohsenin A; Burdick MD; Molina JG; Keane MP; Blackburn MR. 2007. Enhanced CXCL1 production and angiogenesis in adenosine-mediated lung disease. FASEB J 21(4):1026-36. [PubMed: 17227950] [MGI Ref ID J:134751]
Mohsenin A; Mi T; Xia Y; Kellems RE; Chen JF; Blackburn MR. 2007. Genetic removal of the A2A adenosine receptor enhances pulmonary inflammation, mucin production, and angiogenesis in adenosine deaminase-deficient mice. Am J Physiol Lung Cell Mol Physiol 293(3):L753-61. [PubMed: 17601796] [MGI Ref ID J:128038]
Novitskiy SV; Ryzhov S; Zaynagetdinov R; Goldstein AE; Huang Y; Tikhomirov OY; Blackburn MR; Biaggioni I; Carbone DP; Feoktistov I; Dikov MM. 2008. Adenosine receptors in regulation of dendritic cell differentiation and function. Blood 112(5):1822-31. [PubMed: 18559975] [MGI Ref ID J:138722]
Sun CX; Young HW; Molina JG; Volmer JB; Schnermann J; Blackburn MR. 2005. A protective role for the A1 adenosine receptor in adenosine-dependent pulmonary injury. J Clin Invest 115(1):35-43. [PubMed: 15630442] [MGI Ref ID J:95142]
Sun CX; Zhong H; Mohsenin A; Morschl E; Chunn JL; Molina JG; Belardinelli L; Zeng D; Blackburn MR. 2006. Role of A2B adenosine receptor signaling in adenosine-dependent pulmonary inflammation and injury. J Clin Invest 116(8):2173-2182. [PubMed: 16841096] [MGI Ref ID J:113120]
Turner CP; Seli M; Ment L; Stewart W; Yan H; Johansson B; Fredholm BB; Blackburn M; Rivkees SA. 2003. A1 adenosine receptors mediate hypoxia-induced ventriculomegaly. Proc Natl Acad Sci U S A 100(20):11718-22. [PubMed: 12975523] [MGI Ref ID J:85820]
Van De Wiele CJ; Joachims ML; Fesler AM; Vaughn JG; Blackburn MR; McGee ST; Thompson LF. 2006. Further differentiation of murine double-positive thymocytes is inhibited in adenosine deaminase-deficient murine fetal thymic organ culture. J Immunol 176(10):5925-33. [PubMed: 16670300] [MGI Ref ID J:131709]
Wakamiya M; Blackburn MR; Jurecic R; McArthur MJ; Geske RS; Cartwright J Jr; Mitani K; Vaishnav S; Belmont JW; Kellems RE; Finegold MJ; Montgomery Jr CA; Bradley A; Caskey CT.. 1995. Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice. Proc Natl Acad Sci U S A 92(9):3673-7. [PubMed: 7731963] [MGI Ref ID J:25085]
Willems L; Reichelt ME; Molina JG; Sun CX; Chunn JL; Ashton KJ; Schnermann J; Blackburn MR; Headrick JP. 2006. Effects of adenosine deaminase and A1 receptor deficiency in normoxic and ischaemic mouse hearts. Cardiovasc Res 71(1):79-87. [PubMed: 16626672] [MGI Ref ID J:111146]
Xu PA; Kellems RE. 2000. Function of murine adenosine deaminase in the gastrointestinal tract. Biochem Biophys Res Commun 269(3):749-57. [PubMed: 10720488] [MGI Ref ID J:110603]
Young HW; Molina JG; Dimina D; Zhong H; Jacobson M; Chan LN; Chan TS; Lee JJ; Blackburn MR. 2004. A3 adenosine receptor signaling contributes to airway inflammation and mucus production in adenosine deaminase-deficient mice. J Immunol 173(2):1380-9. [PubMed: 15240734] [MGI Ref ID J:91943]
Zhong H; Chunn JL; Volmer JB; Fozard JR; Blackburn MR. 2001. Adenosine-mediated mast cell degranulation in adenosine deaminase-deficient mice. J Pharmacol Exp Ther 298(2):433-40. [PubMed: 11454903] [MGI Ref ID J:132588]
Chunn JL; Mohsenin A; Young HW; Lee CG; Elias JA; Kellems RE; Blackburn MR. 2006. Partially adenosine deaminase-deficient mice develop pulmonary fibrosis in association with adenosine elevations. Am J Physiol Lung Cell Mol Physiol 290(3):L579-87. [PubMed: 16258000] [MGI Ref ID J:107355]
Turner CP; Seli M; Ment L; Stewart W; Yan H; Johansson B; Fredholm BB; Blackburn M; Rivkees SA. 2003. A1 adenosine receptors mediate hypoxia-induced ventriculomegaly. Proc Natl Acad Sci U S A 100(20):11718-22. [PubMed: 12975523] [MGI Ref ID J:85820]
Colony Maintenance
Diet Information LabDiet® 5K52/5K67
| Pricing for USA, Canada and Mexico shipping destinations |
|
*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $1900.00
| Pricing for International shipping destinations |
|
*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $2470.00
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
|
| Control | ||
|---|---|---|
| Noncarrier | ||
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
Purchasing Information
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| phone: | 207-288-6470 |
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