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 +N1   Donating Investigator Stuart Orkin,   Harvard Medical School

Description
Homozygotes die at embryonic day 15 due to severe anemia during erythropoiesis of the fetal liver. There is a defect in beta-globin expression in these mice. This strain may serve as a model for the human disease beta-thalassemia.

Control Information

	Control
	Wild-type from the colony
	101045 B6129SF2/J	(approximate)
Considerations for Choosing Controls

Related Strains

Strains carrying   Klf1^tm1Sho allele

002949

B6.129S4-Klf1tm1Sho/J

View Strains carrying   Klf1^tm1Sho     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

Hemoglobin--Beta Locus; HBB - Models with phenotypic similarity to human disease where etiologies are distinct.2

2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Klf1^tm1Sho/Klf1^tm1Sho

        involves: 129S4/SvJae * C57BL/6

• lethality-prenatal/perinatal
• lethality throughout fetal growth and development (MGI Ref ID J:25651)
  • mice die by E16
• hematopoietic system phenotype
• abnormal erythropoiesis (MGI Ref ID J:25651)
  • the number of nucleated fetal erythroblasts is increased comapred to in wild-type mice
  • erythroid maturation is defective
• abnormal red blood cell (MGI Ref ID J:25651)
  • fetal red blood cells are small and irregularly shaped
• anemia (MGI Ref ID J:25651)

View Research Applications

Research Applications

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

Klf1^tm1Sho related

Hematological Research
Hemoglobin Defects (thalassemia)

Genes & Alleles

Gene & Allele Information

Allele Symbol		Klf1tm1Sho
Allele Name		targeted mutation 1, Stuart Orkin
Allele Type		Targeted (knock-out)
Common Name(s)		EKLF-;
Mutation Made By		Stuart Orkin,   Harvard Medical School
Strain of Origin		129S4/SvJae
ES Cell Line Name		J1
ES Cell Line Strain		129S4/SvJae
Gene Symbol and Name		Klf1, Kruppel-like factor 1 (erythroid)
Chromosome		8
Gene Common Name(s)		EKLF; Eklf; erythroid Kruppel-like factor;
Molecular Note		A neomycin resistance cassette replaced a portion of intron 2 and exon 2, which encodes the zinc-finger DNA-binding domain of the protein. No stable RNA for the targeted gene was detected by RNase protection using RNA from homozygous mutant embryos. [MGI Ref ID J:25651]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

Perkins AC; Sharpe AH; Orkin SH. 1995. Lethal beta-thalassaemia in mice lacking the erythroid CACCC-transcription factor EKLF. Nature 375(6529):318-22. [PubMed: 7753195]  [MGI Ref ID J:25651]

Additional References

Nuez B; Michalovich D; Bygrave A; Ploemacher R; Grosveld F. 1995. Defective haematopoiesis in fetal liver resulting from inactivation of the EKLF gene. Nature 375(6529):316-8. [PubMed: 7753194]  [MGI Ref ID J:25650]

Klf1^tm1Sho related

Drissen R; von Lindern M; Kolbus A; Driegen S; Steinlein P; Beug H; Grosveld F; Philipsen S. 2005. The erythroid phenotype of EKLF-null mice: defects in hemoglobin metabolism and membrane stability. Mol Cell Biol 25(12):5205-14. [PubMed: 15923635]  [MGI Ref ID J:99174]

Funnell AP; Maloney CA; Thompson LJ; Keys J; Tallack M; Perkins AC; Crossley M. 2007. Erythroid Kruppel-like factor directly activates the basic Kruppel-like factor gene in erythroid cells. Mol Cell Biol 27(7):2777-90. [PubMed: 17283065]  [MGI Ref ID J:121369]

Hodge D; Coghill E; Keys J; Maguire T; Hartmann B; McDowall A; Weiss M; Grimmond S; Perkins A. 2006. A global role for EKLF in definitive and primitive erythropoiesis. Blood 107(8):3359-70. [PubMed: 16380451]  [MGI Ref ID J:131239]

Nilson DG; Sabatino DE; Bodine DM; Gallagher PG. 2006. Major erythrocyte membrane protein genes in EKLF-deficient mice. Exp Hematol 34(6):705-12. [PubMed: 16728274]  [MGI Ref ID J:111912]

Perkins AC; Peterson KR; Stamatoyannopoulos G; Witkowska HE; Orkin SH. 2000. Fetal expression of a human Agamma globin transgene rescues globin chain imbalance but not hemolysis in EKLF null mouse embryos. Blood 95(5):1827-33. [PubMed: 10688844]  [MGI Ref ID J:60760]

Suske G; Bruford E; Philipsen S. 2005. Mammalian SP/KLF transcription factors: Bring in the family. Genomics 85(5):551-6. [PubMed: 15820306]  [MGI Ref ID J:97532]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. At least two mice that carry the mutation (if it is a mutant strain) will be provided. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotypes and genders are needed. IMPORTANT NOTE: The genotypes of the animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire for possible genotypes for this specific strain. Animals typically ship within 13 to 16 weeks from your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will typically ship within 25 weeks. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. This strain is included in the Induced Mutant Resource Colony collection. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Wild-type from the colony
	101045 B6129SF2/J	(approximate)
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.

General Terms and Conditions

See Terms of Use

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 and Purchasing Information

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Contact Information
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Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

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

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