These mice carry a spontaneous mutation at the Spta1 locus characterized by severe hereditary elliptocytosis (HE).
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 |
These Spta1sph-Dem mice exhibit severe hereditary elliptocytosis (HE). The mutation is the insertion of an intracisternal A particle element in intron 10 of the erythroid alpha-spectrin gene. This causes exon skipping, the in-frame deletion of 46 amino acids from repeat 5 of alpha-spectrin and alters spectrin dimer/tetramer stability and osmotic fragility. The disease is more severe in homozygous neonates than in alpha-spectrin-deficient mice with hereditary spherocytosis (HS). Thrombosis and infarction are not limited to adults but occur soon after birth. These mice provide a unique model for analyzing spectrin dimer- to-tetramer conversion and identifying factors that influence thrombosis.
Allele Name | spherocytosis-Demant |
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Allele Type | Spontaneous |
Allele Synonym(s) | |
Gene Symbol and Name | Spta1, spectrin alpha, erythrocytic 1 |
Gene Synonym(s) | |
Strain of Origin | CcS3/Dem |
Chromosome | 1 |
Molecular Note | Sequence analysis of genomic DNA shows this allele is the result of an intracisternal A particle transposon insertion into intron 10 of the erythroid alpha-spectrin gene. This leads to abnormal splicing and an in-frame deletion of 46 amino acids from repeat 5 of alpha spectrin. |
When using the sphDem mouse strain in a publication, please cite the originating article(s) and include JAX stock #003816 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or Wildtype for Spna1<sph-Dem> |
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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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