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 N4F9pN1 Generation Definitions   Donating Investigator IMR Colony,   The Jackson Laboratory

Description
Homozygous mice die perinatally. Heterozygous mice show "characteristics typical of severe thalassemia" and are fertile.

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying   Hbb-b1^tm1Unc allele

002683

B6.129P2-Hbb-b1tm1Unc Hbb-b2tm1Unc/J

View Strains carrying   Hbb-b1^tm1Unc     (1 strain)

Strains carrying   Hbb-b2^tm1Unc allele

002683

B6.129P2-Hbb-b1tm1Unc Hbb-b2tm1Unc/J

View Strains carrying   Hbb-b2^tm1Unc     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).

Beta-Thalassemia

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Hbb-b1^tm1Unc/Hbb-b1⁺ Hbb-b2^tm1Unc/Hbb-b2⁺

        involves: 129P2/OlaHsd * C57BL/6J

• growth/size phenotype
• decreased body weight
  • F1 and F2 heterozygotes are significantly smaller   (MGI Ref ID J:30155)
• hematopoietic system phenotype
• abnormal spleen morphology
  • hematopoietic stem cells from heterozygotes transfected with a large fragment of the human beta globin gene and injected back into the heterozygote restored normal spleen morphology   (MGI Ref ID J:88672)
  • erythroid hyperplasia   (MGI Ref ID J:30155)
  • megakaryocytes are present   (MGI Ref ID J:30155)
  • iron particles are present in the macrophages in the centers of areas of erythropoiesis   (MGI Ref ID J:30155)
• • decreased spleen white pulp amount
    • the white pulp is almost completely replaced by hematopoietic tissue   (MGI Ref ID J:30155)
  • increased spleen weight
    • the spleen weight to body weight ratio is significantly greater in heterozygotes   (MGI Ref ID J:30155)
  • intermingled spleen red and white pulp
    • there is no clear distinction between the red and white pulp   (MGI Ref ID J:30155)
• anemia
  • hematopoietic stem cells from heterozygotes transfected with a large fragment of the human beta globin gene and injected back into the heterozygote restored red blood cell counts to normal   (MGI Ref ID J:88672)
  • at 7 weeks, mutants have a decreased red blood cell count with variation in the shape and inequality in the size (many microcytes and occasional polychromatic macrocytes) of the red blood cells   (MGI Ref ID J:30155)
• decreased hematocrit   (MGI Ref ID J:30155)
• decreased hemoglobin content
  • red blood cells are generally hypochromic   (MGI Ref ID J:30155)
• increased bone marrow cell number
  • heterozygotes have increased bone marrow cellularity and increased numbers of megakaryocytes and erythroid precursors   (MGI Ref ID J:30155)
• increased nucleated erythrocyte cell number
  • nucleated red blood cells are found   (MGI Ref ID J:30155)
• reticulocytosis
  • reticulocyte counts are increased 21-fold   (MGI Ref ID J:30155)
• homeostasis/metabolism phenotype
• hemosiderosis
  • hematopoietic stem cells from heterozygotes transfected with a large fragment of the human beta globin gene and injected back into the heterozygote reduced abnormal iron accumulations   (MGI Ref ID J:88672)
  • older (5-6 months) heterozygotes have iron accumulation in the proximal convoluted tubules of the kidney, and hepatocytes and Kupffer cells in the liver a sign of hemosiderosis   (MGI Ref ID J:30155)
• increased circulating bilirubin level
  • serum concentrations of total and indirect bilirubin are elevated in mice 6 to 7 weeks old   (MGI Ref ID J:30155)
• immune system phenotype
• abnormal spleen morphology
  • hematopoietic stem cells from heterozygotes transfected with a large fragment of the human beta globin gene and injected back into the heterozygote restored normal spleen morphology   (MGI Ref ID J:88672)
  • erythroid hyperplasia   (MGI Ref ID J:30155)
  • megakaryocytes are present   (MGI Ref ID J:30155)
  • iron particles are present in the macrophages in the centers of areas of erythropoiesis   (MGI Ref ID J:30155)
• • decreased spleen white pulp amount
    • the white pulp is almost completely replaced by hematopoietic tissue   (MGI Ref ID J:30155)
  • increased spleen weight
    • the spleen weight to body weight ratio is significantly greater in heterozygotes   (MGI Ref ID J:30155)
  • intermingled spleen red and white pulp
    • there is no clear distinction between the red and white pulp   (MGI Ref ID J:30155)
• limbs/digits/tail phenotype
• abnormal femur morphology
  • heterozygotes have a longer zone of proliferation and a shorter zone of osteogenesis   (MGI Ref ID J:30155)
• skeleton phenotype
• abnormal femur morphology
  • heterozygotes have a longer zone of proliferation and a shorter zone of osteogenesis   (MGI Ref ID J:30155)
• decreased compact bone thickness   (MGI Ref ID J:30155)
• integument phenotype
• pallor
  • heterozygotes are pale at birth   (MGI Ref ID J:30155)

Hbb-b1^tm1Unc/Hbb-b1⁺ Hbb-b2^tm1Unc/Hbb-b2⁺

        involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

• hematopoietic system phenotype
• decreased hematocrit   (MGI Ref ID J:94421)

Hbb-b1^tm1Unc/Hbb-b1⁺ Hbb-b2^tm1Unc/Hbb-b2⁺

        involves: 129P2/OlaHsd * C57BL/6N

• hematopoietic system phenotype
• abnormal erythropoiesis
  • impaired   (MGI Ref ID J:185154)
• • abnormal erythrocyte morphology   (MGI Ref ID J:185154)
  • • decreased erythrocyte cell number
      • in males and females compared to sex and age matched littermates at 6 months of age   (MGI Ref ID J:185154)
    • decreased hemoglobin content
      • in males and females compared to sex and age matched littermates at 6 months of age   (MGI Ref ID J:185154)
    • decreased mean corpuscular volume
      • in males and females compared to sex and age matched littermates at 6 months of age   (MGI Ref ID J:185154)
  • increased erythroid progenitor cell number
    • increase in the proportion of immature erythroid progenitor cells in the spleen   (MGI Ref ID J:185154)
  • reticulocytosis
    • increase in the percentage of reticulocytes   (MGI Ref ID J:185154)
• enlarged spleen   (MGI Ref ID J:185154)
• increased spleen iron level
  • more severe in females than in males   (MGI Ref ID J:185154)
• homeostasis/metabolism phenotype
• increased circulating erythropoietin level
  • remarkably high serum levels   (MGI Ref ID J:185154)
  • levels are higher in males than in females   (MGI Ref ID J:185154)
• increased liver iron level
  • more severe in females than in males   (MGI Ref ID J:185154)
• increased spleen iron level
  • more severe in females than in males   (MGI Ref ID J:185154)
• liver/biliary system phenotype
• increased liver iron level
  • more severe in females than in males   (MGI Ref ID J:185154)
• immune system phenotype
• enlarged spleen   (MGI Ref ID J:185154)
• increased spleen iron level
  • more severe in females than in males   (MGI Ref ID J:185154)

Hbb-b1^tm1Unc/Hbb-b1^tm1Unc Hbb-b2^tm1Unc/Hbb-b2^tm1Unc

        involves: 129P2/OlaHsd * C57BL/6J

• mortality/aging
• complete perinatal lethality
  • all homozygous embryos are stillborn or die within 12 hours of birth   (MGI Ref ID J:30155)

View Research Applications

Research Applications

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

Hbb-b1^tm1Unc related

Hematological Research
Hemoglobin Defects
      beta^O-thalassemia

Hbb-b2^tm1Unc related

      beta^O-thalassemia

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Hbb-b1tm1Unc
Allele Name		targeted mutation 1, University of North Carolina
Allele Type		Targeted (knock-out)
Common Name(s)		Hbbth-3; Hbbth3;
Strain of Origin		129P2/OlaHsd
ES Cell Line Name		E14TG2a
ES Cell Line Strain		129P2/OlaHsd
Gene Symbol and Name		Hbb-b1, hemoglobin, beta adult major chain
Chromosome		7
Gene Common Name(s)		AA409645; MommeD7; beta maj; beta major globin; beta1; expressed sequence AA409645; modifier of murine metastable epialleles, D7;
Molecular Note		Hbb-b1 and Hbb-b2 were deleted using a two-step "plug and socket" method which leaves an hprt gene integrated in the genome. [MGI Ref ID J:20916]
Allele Symbol		Hbb-b2tm1Unc
Allele Name		targeted mutation 1, University of North Carolina
Allele Type		Targeted (knock-out)
Common Name(s)		Hbbth-3; Hbbth3;
Strain of Origin		129P2/OlaHsd
ES Cell Line Name		E14TG2a
ES Cell Line Strain		129P2/OlaHsd
Gene Symbol and Name		Hbb-b2, hemoglobin, beta adult minor chain
Chromosome		7
Gene Common Name(s)		AI036344; beta min; beta minor globin; beta2; expressed sequence AI036344;
Molecular Note		Hbb-b1 and Hbb-b2 were deleted using a two-step "plug and socket" method which leaves an hprt gene integrated in the genome. [MGI Ref ID J:20916]

Genotyping

Genotyping Information

Genotyping Protocols

Generic HPRT_Alternative,

Separated MCA

Generic HPRT_Alternative, Separated PCR
Human HPRT/KO2, Separated PCR
Human HPRT/KO2, Separated PCR

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Yang B; Kirby S; Lewis J; Detloff PJ; Maeda N; Smithies O. 1995. A mouse model for beta 0-thalassemia. Proc Natl Acad Sci U S A 92(25):11608-12. [PubMed: 8524813]  [MGI Ref ID J:30155]

Additional References

Hbb-b1^tm1Unc related

Adamsky K; Weizer O; Amariglio N; Breda L; Harmelin A; Rivella S; Rachmilewitz E; Rechavi G. 2004. Decreased hepcidin mRNA expression in thalassemic mice. Br J Haematol 124(1):123-4. [PubMed: 14675418]  [MGI Ref ID J:88512]

Brown FC; Scott N; Rank G; Collinge JE; Vadolas J; Vickaryous N; Whitelaw N; Whitelaw E; Kile BT; Jane SM; Curtis DJ. 2013. ENU mutagenesis identifies the first mouse mutants reproducing human beta-thalassemia at the genomic level. Blood Cells Mol Dis 50(2):86-92. [PubMed: 23040355]  [MGI Ref ID J:190446]

Chen ML; Logan TD; Hochberg ML; Shelat SG; Yu X; Wilding GE; Tan W; Kujoth GC; Prolla TA; Selak MA; Kundu M; Carroll M; Thompson JE. 2009. Erythroid dysplasia, megaloblastic anemia, and impaired lymphopoiesis arising from mitochondrial dysfunction. Blood 114(19):4045-53. [PubMed: 19734452]  [MGI Ref ID J:154187]

Detloff PJ; Lewis J; John SW; Shehee WR; Langenbach R; Maeda N; Smithies O. 1994. Deletion and replacement of the mouse adult beta-globin genes by a plug and socket repeated targeting strategy. Mol Cell Biol 14(10):6936-43. [PubMed: 7935410]  [MGI Ref ID J:20916]

Fabry ME; Suzuka SM; Weinberg RS; Lawrence C; Factor SM; Gilman JG; Costantini F; Nagel RL. 2001. Second generation knockout sickle mice: the effect of HbF. Blood 97(2):410-8. [PubMed: 11154217]  [MGI Ref ID J:66961]

Gardenghi S; Ramos P; Marongiu MF; Melchiori L; Breda L; Guy E; Muirhead K; Rao N; Roy CN; Andrews NC; Nemeth E; Follenzi A; An X; Mohandas N; Ginzburg Y; Rachmilewitz EA; Giardina PJ; Grady RW; Rivella S. 2010. Hepcidin as a therapeutic tool to limit iron overload and improve anemia in beta-thalassemic mice. J Clin Invest 120(12):4466-77. [PubMed: 21099112]  [MGI Ref ID J:171864]

He Z; Russell JE. 2004. Antisickling effects of an endogenous human alpha-like globin. Nat Med 10(4):365-7. [PubMed: 15034572]  [MGI Ref ID J:131270]

He Z; Russell JE. 2007. Dynamic posttranscriptional regulation of epsilon-globin gene expression in vivo. Blood 109(2):795-801. [PubMed: 17003365]  [MGI Ref ID J:144004]

Jamsai D; Zaibak F; Vadolas J; Voullaire L; Fowler KJ; Gazeas S; Peters H; Fucharoen S; Williamson R; Ioannou PA. 2006. A humanized BAC transgenic/knockout mouse model for HbE/beta-thalassemia. Genomics 88(3):309-15. [PubMed: 16631345]  [MGI Ref ID J:114910]

Khandros E; Thom CS; D'Souza J; Weiss MJ. 2012. Integrated protein quality-control pathways regulate free alpha-globin in murine beta-thalassemia. Blood 119(22):5265-75. [PubMed: 22427201]  [MGI Ref ID J:185177]

Kobayashi H; Gilbert V; Liu Q; Kapitsinou PP; Unger TL; Rha J; Rivella S; Schlondorff D; Haase VH. 2012. Myeloid cell-derived hypoxia-inducible factor attenuates inflammation in unilateral ureteral obstruction-induced kidney injury. J Immunol 188(10):5106-15. [PubMed: 22490864]  [MGI Ref ID J:188688]

Kong Y; Zhou S; Kihm AJ; Katein AM; Yu X; Gell DA; Mackay JP; Adachi K; Foster-Brown L; Louden CS; Gow AJ; Weiss MJ. 2004. Loss of alpha-hemoglobin-stabilizing protein impairs erythropoiesis and exacerbates beta-thalassemia. J Clin Invest 114(10):1457-66. [PubMed: 15545996]  [MGI Ref ID J:94421]

Libani IV; Guy EC; Melchiori L; Schiro R; Ramos P; Breda L; Scholzen T; Chadburn A; Liu Y; Kernbach M; Baron-Luhr B; Porotto M; de Sousa M; Rachmilewitz EA; Hood JD; Cappellini MD; Giardina PJ; Grady RW; Gerdes J; Rivella S. 2008. Decreased differentiation of erythroid cells exacerbates ineffective erythropoiesis in beta-thalassemia. Blood 112(3):875-85. [PubMed: 18480424]  [MGI Ref ID J:138595]

Martin L; Douet V; VanWart CM; Heller MB; Le Saux O. 2011. A mouse model of beta-thalassemia shows a liver-specific down-regulation of Abcc6 expression. Am J Pathol 178(2):774-83. [PubMed: 21281810]  [MGI Ref ID J:169076]

Matte A; Low PS; Turrini F; Bertoldi M; Campanella ME; Spano D; Pantaleo A; Siciliano A; De Franceschi L. 2010. Peroxiredoxin-2 expression is increased in beta-thalassemic mouse red cells but is displaced from the membrane as a marker of oxidative stress. Free Radic Biol Med 49(3):457-66. [PubMed: 20488244]  [MGI Ref ID J:162428]

May C; Rivella S; Chadburn A; Sadelain M. 2002. Successful treatment of murine beta-thalassemia intermedia by transfer of the human beta-globin gene. Blood 99(6):1902-8. [PubMed: 11877258]  [MGI Ref ID J:88672]

Nai A; Pagani A; Mandelli G; Lidonnici MR; Silvestri L; Ferrari G; Camaschella C. 2012. Deletion of TMPRSS6 attenuates the phenotype in a mouse model of beta-thalassemia. Blood 119(21):5021-9. [PubMed: 22490684]  [MGI Ref ID J:185154]

Parrow NL; Gardenghi S; Ramos P; Casu C; Grady RW; Anderson ER; Shah YM; Li H; Ginzburg YZ; Fleming RE; Rivella S. 2012. Decreased hepcidin expression in murine beta-thalassemia is associated with suppression of Bmp/Smad signaling. Blood 119(13):3187-9. [PubMed: 22461476]  [MGI Ref ID J:183628]

Rivella S; May C; Chadburn A; Riviere I; Sadelain M. 2003. A novel murine model of Cooley anemia and its rescue by lentiviral-mediated human beta-globin gene transfer. Blood 101(8):2932-9. [PubMed: 12480689]  [MGI Ref ID J:184966]

Romero JR; Suzuka SM; Nagel RL; Fabry ME. 2004. Expression of HbC and HbS, but not HbA, results in activation of K-Cl cotransport activity in transgenic mouse red cells. Blood 103(6):2384-90. [PubMed: 14615383]  [MGI Ref ID J:88563]

Russell JE; Liebhaber SA. 1998. Reversal of lethal alpha- and beta-thalassemias in mice by expression of human embryonic globins. Blood 92(9):3057-63. [PubMed: 9787139]  [MGI Ref ID J:114200]

Tanno T; Porayette P; Sripichai O; Noh SJ; Byrnes C; Bhupatiraju A; Lee YT; Goodnough JB; Harandi O; Ganz T; Paulson RF; Miller JL. 2009. Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells. Blood 114(1):181-6. [PubMed: 19414861]  [MGI Ref ID J:150292]

Vadolas J; Nefedov M; Wardan H; Mansooriderakshan S; Voullaire L; Jamsai D; Williamson R; Ioannou PA. 2006. Humanized beta-thalassemia mouse model containing the common IVSI-110 splicing mutation. J Biol Chem 281(11):7399-405. [PubMed: 16421096]  [MGI Ref ID J:110556]

Vadolas J; Wardan H; Bosmans M; Zaibak F; Jamsai D; Voullaire L; Williamson R; Ioannou PA. 2005. Transgene copy number-dependent rescue of murine beta-globin knockout mice carrying a 183 kb human beta-globin BAC genomic fragment. Biochim Biophys Acta 1728(3):150-62. [PubMed: 15820143]  [MGI Ref ID J:124445]

Voon HP; Wardan H; Vadolas J. 2007. Co-inheritance of alpha- and beta-thalassaemia in mice ameliorates thalassaemic phenotype. Blood Cells Mol Dis 39(2):184-8. [PubMed: 17493845]  [MGI Ref ID J:141719]

Wallace KL; Marshall MA; Ramos SI; Lannigan JA; Field JJ; Strieter RM; Linden J. 2009. NKT cells mediate pulmonary inflammation and dysfunction in murine sickle cell disease through production of IFN-gamma and CXCR3 chemokines. Blood 114(3):667-76. [PubMed: 19433855]  [MGI Ref ID J:150754]

Wu F; Saleem MA; Kampik NB; Satchwell TJ; Williamson RC; Blattner SM; Ni L; Toth T; White G; Young MT; Parker MD; Alper SL; Wagner CA; Toye AM. 2010. Anion exchanger 1 interacts with nephrin in podocytes. J Am Soc Nephrol 21(9):1456-67. [PubMed: 20576809]  [MGI Ref ID J:185927]

Yu X; Kong Y; Dore LC; Abdulmalik O; Katein AM; Zhou S; Choi JK; Gell D; Mackay JP; Gow AJ; Weiss MJ. 2007. An erythroid chaperone that facilitates folding of alpha-globin subunits for hemoglobin synthesis. J Clin Invest 117(7):1856-65. [PubMed: 17607360]  [MGI Ref ID J:124209]

Hbb-b2^tm1Unc related

Adamsky K; Weizer O; Amariglio N; Breda L; Harmelin A; Rivella S; Rachmilewitz E; Rechavi G. 2004. Decreased hepcidin mRNA expression in thalassemic mice. Br J Haematol 124(1):123-4. [PubMed: 14675418]  [MGI Ref ID J:88512]

Brown FC; Scott N; Rank G; Collinge JE; Vadolas J; Vickaryous N; Whitelaw N; Whitelaw E; Kile BT; Jane SM; Curtis DJ. 2013. ENU mutagenesis identifies the first mouse mutants reproducing human beta-thalassemia at the genomic level. Blood Cells Mol Dis 50(2):86-92. [PubMed: 23040355]  [MGI Ref ID J:190446]

Chen ML; Logan TD; Hochberg ML; Shelat SG; Yu X; Wilding GE; Tan W; Kujoth GC; Prolla TA; Selak MA; Kundu M; Carroll M; Thompson JE. 2009. Erythroid dysplasia, megaloblastic anemia, and impaired lymphopoiesis arising from mitochondrial dysfunction. Blood 114(19):4045-53. [PubMed: 19734452]  [MGI Ref ID J:154187]

Detloff PJ; Lewis J; John SW; Shehee WR; Langenbach R; Maeda N; Smithies O. 1994. Deletion and replacement of the mouse adult beta-globin genes by a plug and socket repeated targeting strategy. Mol Cell Biol 14(10):6936-43. [PubMed: 7935410]  [MGI Ref ID J:20916]

Fabry ME; Suzuka SM; Weinberg RS; Lawrence C; Factor SM; Gilman JG; Costantini F; Nagel RL. 2001. Second generation knockout sickle mice: the effect of HbF. Blood 97(2):410-8. [PubMed: 11154217]  [MGI Ref ID J:66961]

Gardenghi S; Ramos P; Marongiu MF; Melchiori L; Breda L; Guy E; Muirhead K; Rao N; Roy CN; Andrews NC; Nemeth E; Follenzi A; An X; Mohandas N; Ginzburg Y; Rachmilewitz EA; Giardina PJ; Grady RW; Rivella S. 2010. Hepcidin as a therapeutic tool to limit iron overload and improve anemia in beta-thalassemic mice. J Clin Invest 120(12):4466-77. [PubMed: 21099112]  [MGI Ref ID J:171864]

He Z; Russell JE. 2004. Antisickling effects of an endogenous human alpha-like globin. Nat Med 10(4):365-7. [PubMed: 15034572]  [MGI Ref ID J:131270]

He Z; Russell JE. 2007. Dynamic posttranscriptional regulation of epsilon-globin gene expression in vivo. Blood 109(2):795-801. [PubMed: 17003365]  [MGI Ref ID J:144004]

Khandros E; Thom CS; D'Souza J; Weiss MJ. 2012. Integrated protein quality-control pathways regulate free alpha-globin in murine beta-thalassemia. Blood 119(22):5265-75. [PubMed: 22427201]  [MGI Ref ID J:185177]

Kong Y; Zhou S; Kihm AJ; Katein AM; Yu X; Gell DA; Mackay JP; Adachi K; Foster-Brown L; Louden CS; Gow AJ; Weiss MJ. 2004. Loss of alpha-hemoglobin-stabilizing protein impairs erythropoiesis and exacerbates beta-thalassemia. J Clin Invest 114(10):1457-66. [PubMed: 15545996]  [MGI Ref ID J:94421]

Libani IV; Guy EC; Melchiori L; Schiro R; Ramos P; Breda L; Scholzen T; Chadburn A; Liu Y; Kernbach M; Baron-Luhr B; Porotto M; de Sousa M; Rachmilewitz EA; Hood JD; Cappellini MD; Giardina PJ; Grady RW; Gerdes J; Rivella S. 2008. Decreased differentiation of erythroid cells exacerbates ineffective erythropoiesis in beta-thalassemia. Blood 112(3):875-85. [PubMed: 18480424]  [MGI Ref ID J:138595]

Martin L; Douet V; VanWart CM; Heller MB; Le Saux O. 2011. A mouse model of beta-thalassemia shows a liver-specific down-regulation of Abcc6 expression. Am J Pathol 178(2):774-83. [PubMed: 21281810]  [MGI Ref ID J:169076]

Matte A; Low PS; Turrini F; Bertoldi M; Campanella ME; Spano D; Pantaleo A; Siciliano A; De Franceschi L. 2010. Peroxiredoxin-2 expression is increased in beta-thalassemic mouse red cells but is displaced from the membrane as a marker of oxidative stress. Free Radic Biol Med 49(3):457-66. [PubMed: 20488244]  [MGI Ref ID J:162428]

May C; Rivella S; Chadburn A; Sadelain M. 2002. Successful treatment of murine beta-thalassemia intermedia by transfer of the human beta-globin gene. Blood 99(6):1902-8. [PubMed: 11877258]  [MGI Ref ID J:88672]

Nai A; Pagani A; Mandelli G; Lidonnici MR; Silvestri L; Ferrari G; Camaschella C. 2012. Deletion of TMPRSS6 attenuates the phenotype in a mouse model of beta-thalassemia. Blood 119(21):5021-9. [PubMed: 22490684]  [MGI Ref ID J:185154]

Nishino T; Cao H; Stamatoyannopoulos G; Emery DW. 2006. Effects of human gamma-globin in murine beta-thalassaemia. Br J Haematol 134(1):100-8. [PubMed: 16803575]  [MGI Ref ID J:110159]

Parrow NL; Gardenghi S; Ramos P; Casu C; Grady RW; Anderson ER; Shah YM; Li H; Ginzburg YZ; Fleming RE; Rivella S. 2012. Decreased hepcidin expression in murine beta-thalassemia is associated with suppression of Bmp/Smad signaling. Blood 119(13):3187-9. [PubMed: 22461476]  [MGI Ref ID J:183628]

Rivella S; May C; Chadburn A; Riviere I; Sadelain M. 2003. A novel murine model of Cooley anemia and its rescue by lentiviral-mediated human beta-globin gene transfer. Blood 101(8):2932-9. [PubMed: 12480689]  [MGI Ref ID J:184966]

Romero JR; Suzuka SM; Nagel RL; Fabry ME. 2004. Expression of HbC and HbS, but not HbA, results in activation of K-Cl cotransport activity in transgenic mouse red cells. Blood 103(6):2384-90. [PubMed: 14615383]  [MGI Ref ID J:88563]

Russell JE; Liebhaber SA. 1998. Reversal of lethal alpha- and beta-thalassemias in mice by expression of human embryonic globins. Blood 92(9):3057-63. [PubMed: 9787139]  [MGI Ref ID J:114200]

Tanno T; Porayette P; Sripichai O; Noh SJ; Byrnes C; Bhupatiraju A; Lee YT; Goodnough JB; Harandi O; Ganz T; Paulson RF; Miller JL. 2009. Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells. Blood 114(1):181-6. [PubMed: 19414861]  [MGI Ref ID J:150292]

Vadolas J; Nefedov M; Wardan H; Mansooriderakshan S; Voullaire L; Jamsai D; Williamson R; Ioannou PA. 2006. Humanized beta-thalassemia mouse model containing the common IVSI-110 splicing mutation. J Biol Chem 281(11):7399-405. [PubMed: 16421096]  [MGI Ref ID J:110556]

Vadolas J; Wardan H; Bosmans M; Zaibak F; Jamsai D; Voullaire L; Williamson R; Ioannou PA. 2005. Transgene copy number-dependent rescue of murine beta-globin knockout mice carrying a 183 kb human beta-globin BAC genomic fragment. Biochim Biophys Acta 1728(3):150-62. [PubMed: 15820143]  [MGI Ref ID J:124445]

Voon HP; Wardan H; Vadolas J. 2007. Co-inheritance of alpha- and beta-thalassaemia in mice ameliorates thalassaemic phenotype. Blood Cells Mol Dis 39(2):184-8. [PubMed: 17493845]  [MGI Ref ID J:141719]

Wu F; Saleem MA; Kampik NB; Satchwell TJ; Williamson RC; Blattner SM; Ni L; Toth T; White G; Young MT; Parker MD; Alper SL; Wagner CA; Toye AM. 2010. Anion exchanger 1 interacts with nephrin in podocytes. J Am Soc Nephrol 21(9):1456-67. [PubMed: 20576809]  [MGI Ref ID J:185927]

Yu X; Kong Y; Dore LC; Abdulmalik O; Katein AM; Zhou S; Choi JK; Gell D; Mackay JP; Gow AJ; Weiss MJ. 2007. An erythroid chaperone that facilitates folding of alpha-globin subunits for hemoglobin synthesis. J Clin Invest 117(7):1856-65. [PubMed: 17607360]  [MGI Ref ID J:124209]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Colony Maintenance

Diet Information	LabDiet® 5K52/5K67

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

See Terms of Use tab for General Terms and Conditions

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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Ordering Information
JAX^® Mice
Surgical and Preconditioning Services
JAX^® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form

Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries regarding Terms of Use

Contracts Administration

phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.