Strain Name: |
B6;129P2-Hbbtm2Unc/J |
|---|---|
Stock Number: |
003250 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Genes & Alleles | Hbb; Hbbtm2Unc; |
Product Information
Strain Details
Type JAX® GEMM® Strain - Mutant Stock Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Targeted Mutation Species laboratory mouse Donating Investigator Richard Kole, University of North Carolina-Chapel Hill Generation F?+3 Strain Description
Heterozygotes show the same aberrant splicing as their human counterparts and produce reduced amounts of the mouse beta globin chains and no human beta globin. Heterozygotes exhibit moderate thalassemia (anemia, splenomegaly, abnormal hematologic indices). Homozygotes are not viable.Strain Development
The investigators created a replacement line for the murine adult beta globin genes. The mouse line contains the human BetaIVS-2-654 gene in place of the murine adult beta major and beta minor genes. This was performed using the "plug-socket" method of homologous recombination in an E14Tg2a-derived ES cell line. The human gene contains a C->T splicing mutation at position 654 in the second intron. This forces the beta globin mRNA to be spliced abnormally. This is the first model to include a known human splicing mutation.
Gene & Allele Details
| Allele Symbol | Hbbtm2Unc | ||
|---|---|---|---|
| Allele Name | targeted mutation 2, University of North Carolina | ||
| Common Name(s) | Hbbth-4; th-4; | ||
| Mutation Made By | Richard Kole, University of North Carolina-Chapel Hill | ||
| Strain of Origin | 129P2/OlaHsd | ||
| ES Cell Line Name | E14TG2a | ||
| ES Cell Line Strain | 129P2/OlaHsd | ||
| Gene Symbol and Name | Hbb, hemoglobin beta chain complex | ||
| Chromosome | 7 | ||
| Gene Common Name(s) | CD113t-C; HBD; | ||
| Molecular Note | Hbb-b1 and Hbb-b2 were replaced with sequence encoding human HBB containing the beta-thalassemia associated mutation, IVS-2-654. The insertion was made using the "plug and socket" method which leaves an hprt gene downstream of the inserted human sequence. RT-PCR analysis of heterozygous mutant mice identified aberrant splicing similar to that observed in humans with the IVS-2-654 mutation. [MGI Ref ID J:64295] | ||
Control Information
| Wildtype controls from the colony or B6129PF2 (Stock No. 100903) may be used as controls | ||
| Considerations for Choosing Controls | ||
Genotyping Protocols
Human HPRT/KO2
Related Strains
Strains carrying other alleles of Hbb
000409 B10.129P-H1b Hbbd Tyrc Ea7a/(5M)oSnJ 000418 B10.129P-H1b Tyrc Hbbd/(5M)nSnJ 000432 B10.C-H1b Hbbd Tyrc/(41N)SnJ 000562 B6(Cg)-Tubtub/J 002204 B6.129P2-Hbbtm1Unc/J 000383 B6.C-Tyrc H1b Hbbd/ByJ 002074 B6.Cg-Gpi1a Hbbd H1b/DehJ 000899 C.B6-Tyr+ Hbbs/J 000996 C57BL/6J-Hbbd3th/J 000758 C57BL/6J-Hbbp Hrrh-7J/J 003342 STOCK Hbatm1Paz Hbbtm1Tow Tg(HBA-HBBs)41Paz/J View Strains carrying other alleles of Hbb (11 strains)
Research Applications
This mouse can be used to support research in many areas including:Hbbtm2Unc related
Hematological Research
Hemoglobin Defects
Mouse/Human Gene Homologs
thalassemia, beta
References
Selected Reference(s)
Additional ReferencesLewis J; Yang B; Kim R; Sierakowska H; Kole R; Smithies O; Maeda N. 1998. A common human beta globin splicing mutation modeled in mice. Blood 91(6):2152-6. [PubMed: 9490703] [MGI Ref ID J:64295]
Price and Supply Information
| Strain Name: | B6;129P2-Hbbtm2Unc/J |
| Stock Number: | 003250 |
Price Details
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Supply Details
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. |
| Licensing | See General Terms and Conditions below |
| Control Information | View Control Information in Strain Details. |
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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.Ordering and Purchasing Information
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