These mice carry a spontaneous mutation at the Spta1 locus characterized by spherocytosis and some aspects of sickle cell anemia.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Spta1 | spectrin alpha, erythrocytic 1 |
Homozygotes provide a molecular and phenotypic model of hereditary spherocytosis type 3 and a phenotypic model for hereditary spherocytosis type 1 and some aspects of sickle cell anemia. Most phenotypic assessment has been performed using F1 homozygous offspring of heterozygotes from the C57BL/6J and WB/Re congenic strains or homozygotes generated on a B6;WB segregating background. Approximately half die by 6 months of age. Homozygotes display hemolytic anemia with spherocytosis, microcytosis, reduced hematocrit, reticulocytisis, extramedullary hematopoiesis in the spleen and liver, lymphocytosis, neutrophilia, lymph node hyperlasia, and cardiac hypertrophy. Homozygotes can be identified within the first day of birth by their jaundiced color. Consequent to the underlying disorder, homozygotes are prone to developing gallstones, pneumonitis, and vaso-occulsive disease in multiple organs.
The hymolytic anemia mutation arose spontaneously in the DBA/1J inbred strain at The Jackson Laboratory in approximately 1960. This mutation was backcrossed onto the C57BL/6J and WB/Re inbred backgrounds by Seldon Bernstein. The WB/Re congenic reached generation N5 in 1968, N9 in 1970, N24 in 1978, N34 in 1986 and was subsequently transferred to the colony of Dr. Jane Barker. In 2010 sperm were cryopreserved from heterozygous males at generation N81.
Allele Name | hemolytic anemia |
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Allele Type | Spontaneous |
Allele Synonym(s) | ha; sph1J; Sph-J |
Gene Symbol and Name | Spta1, spectrin alpha, erythrocytic 1 |
Gene Synonym(s) | |
Strain of Origin | DBA/1J |
Chromosome | 1 |
Molecular Note | The mutation in the sph-ha mouse (also known as sph-J) was identified as a C-to-A transversion in exon 52 that converts a tyrosine 2403 to a stop codon (p.Y2403*). This mutation truncates the protein by 13 amino acids. |
When using the WB-hemolytic anemia mouse strain in a publication, please cite the originating article(s) and include JAX stock #000451 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or wildtype for Spna1<spa-ha> |
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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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