The entire coding region of the erythroid associated factor gene has been disrupted in this mutant mouse line. This gene (also called α-hemoglobin stabilizing protein or AHSP) specifically binds the cytotoxic free α-Hb subunit of hemoglobin A. These AHSP-mutant mice may be useful in studying erythroid development/erythropoiesis, thalassemia, Heinz body hemolytic anemia, and other hemoglobinopathies.
Mitchell J Weiss, St. Jude Children's Research Hospital
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Ahsp | alpha hemoglobin stabilizing protein |
Mice homozygous for this targeted allele (AHSP-/- or ERAF-/-) are fertile with normal lifespans up to at least 18 months of age. No RNA or protein from the targeted gene is detected in hematopoietic tissues from homozygotes. AHSP-/- mice exhibit abnormal erythrocyte morphology with intracellular inclusion bodies that stain positively for denatured hemoglobin (Heinz bodies). Homozygous mice also have reduced lifespan of circulating red blood cells, increased apoptosis of erythroid precursors, and increased production of reactive oxygen species (ROS) with consequent damage to hemoglobin A and other cellular components. As the α-hemoglobin stabilizing protein specifically binds the cytotoxic free α-Hb subunit of hemoglobin A, these AHSP-mutant mice may be useful in studying erythroid development/erythropoiesis, thalassemia, Heinz body hemolytic anemia, and other hemoglobinopathies.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. As AHSP-mutant mice were originally described on a mixed C57BL/6 and 129 genetic background, it should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.
A targeting vector designed to replace the entire coding sequence of the targeted gene with a loxP-flanked pgk-neo cassette was electroporated into 129S6/SvEvTac-derived TL1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into blastocysts. The resulting chimera's were bred with C57BL/6 mice to produce heterozygous mutants. Mice were then bred to mice with cre expression in sperm (undetermined genetic background) to remove the neo cassette. The resulting offspring (with a single loxP site replacing the entire coding region) were selected. This mutant strain was then backcrossed to C57BL/6 bred for at least 9 generations prior to arrival at The Jackson Laboratory.
Allele Name | targeted mutation 1.1, Mitchell J Weiss |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | AHSP- |
Gene Symbol and Name | Ahsp, alpha hemoglobin stabilizing protein |
Gene Synonym(s) | |
Strain of Origin | 129S6/SvEvTac |
Chromosome | UN |
Molecular Note | A targeting vector was designed to replace the entire coding sequence of the targeted gene with a loxP-flanked pgk-neo cassette. Mice were then bred to spermadine-cre mice to remove the neo cassette. The resulting offspring have a single loxP site replacing the entire coding region. |
Mutations Made By | Mitchell Weiss, St. Jude Children's Research Hospital |
When maintaining a live colony, homozygous mice may be bred.
When using the B6.129S6(Cg)-Ahsptm1.1Mjwe/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #007858 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous for Eraf<tm1.1Mjwe> |
Frozen Mouse Embryo | B6.129S6(Cg)-Ahsp<tm1.1Mjwe>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129S6(Cg)-Ahsp<tm1.1Mjwe>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129S6(Cg)-Ahsp<tm1.1Mjwe>/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6.129S6(Cg)-Ahsp<tm1.1Mjwe>/J Frozen Embryo | $3373.50 |
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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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