These mice carry a spontaneous mutation at the Ank1 locus characterized by severe normocytic hypochromic anemia.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous (Hypomorph) | Ank1 | ankyrin 1, erythroid |
Normoblastosis homozygotes have a severe normocytic hypochromic anemia and can be identified at birth, or soon thereafter, by their bright orange color, which fades as they mature. They have elevated serum bilirubin and greatly increased fecal urobilinogen and the serum and urine remain highly colored even as the overall body color fades. Homozygotes are smaller than their wildtype and heterozygous siblings and display hepatomegaly, cardiac hypertrophy, marrow hyperplasia, leukocytosis, pronounced splenomegaly and enlarged lymph nodes. Nevertheless, the majority of homozygotes survive to adulthood. Immature red blood cells can be found in high numbers in the peripheral blood, and red cells are hypchromic although of normal or slightly elevated mean cell volume. In addition to hematopoietic defects this ankyrin 1 hypomorph also displays Purkinje cell degeneration such that there is a 50% loss of Purkinje cells at 6 months of age and concomitant tremors and unbalanced gait (Peters et al., 1991). More than half of homozygotes on a WBB6F1 hybrid background have been reported to develop calcium bilirubinate pigment gallstones after 6 months of age, with luminal gallstones occurring twice as frequently in females as in males (Trotman et al., 1980).
The normoblastic anemia mutation arose spontaneously in late 1965 in a heterogeneous stock maintained by Dr. Katherine Hummel at The Jackson Laboratory. Dr. Seldon Bernstein and then Dr. Jane Barker backcrossed this mutation onto the C57BL/6J and WB/Re (stock #000453) backgrounds by repeated backcross-intercross breeding. In 1974 this strain reached generation N16, in 1986 N34, and 2001 embryos were generated for cryopreservation from C57BL/6J females bred to heterozygous males at generation N56.
Allele Name | normoblastic anemia |
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Allele Type | Spontaneous (Hypomorph) |
Allele Synonym(s) | nb; normoblastosis |
Gene Symbol and Name | Ank1, ankyrin 1, erythroid |
Gene Synonym(s) | |
Strain of Origin | Non-inbred stock |
Chromosome | 8 |
Molecular Note | This mutation arose in 1965 in a heterogeneous stock of mice maintained by Katherine P. Hummel at The Jackson Laboratory. A guanosine residue at position 4367 is deleted in exon 36 resulting in a frame shift mutation that introduces a premature stop 13 codons downstream and produces a truncated but functional protein. |
When using the B6-normoblastic anemia mouse strain in a publication, please cite the originating article(s) and include JAX stock #000448 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or wildtype for Ank1<nb> |
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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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