These mice carry a spontaneous mutation at the Slc12a6 locus characterized by ataxia of the hind legs.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Slc12a6 | solute carrier family 12, member 6 |
Giant axonopathy (gaxp) is an autosomal recessive mutation that arose spontaneously in the Mouse Mutant Resource colony at The Jackson Laboratory. It occurred in a strain bearing another mutation on the C3H/HeDiSnJ background. Homozygous mutants exhibit ataxia of the hind legs with a slight side - to - side wobble. Histopathologic studies showed pale staining, vacuolated structures measuring between 20 and 150 micra in deep cerebellar nuclei, pons, lateral vestibular nuclei and dorsal root and trigeminal ganglia. Ultrastructurally these structures were often bounded by a few layers of myelin, suggesting that they are swollen axons. gaxp has been mapped to Chromosome 2. The most likely gene order places the mutation between D2Mit128 and D2Mit102 in 174 meioses tested.
The giant axonopathy mutation arose spontaneously on the C3H/HeDiSn-KitlSl-18J/J strain in 1996 and has been kept on the C3H/HeDiSn background by inbreeding heterozygote and homozygote siblings without the steel mutation. In 2009 this strain reached generation F59.
Allele Name | giant axonopathy |
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Allele Type | Spontaneous |
Allele Synonym(s) | |
Gene Symbol and Name | Slc12a6, solute carrier family 12, member 6 |
Gene Synonym(s) | |
Strain of Origin | C3H/HeSnJ |
Chromosome | 2 |
Molecular Note | This spontaneous mutation arose at The Jackson Laboratory. A 17 bp deletion in exon 4 was detected through sequence analysis. Western blot analysis indicated that no detectable protein product is expressed in kidney and brain tissues. |
When using the giant axonopathy mouse strain in a publication, please cite the originating article(s) and include JAX stock #004683 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous for Slc12a6<gaxp> |
Frozen Mouse Embryo | C3H/HeSnJ-Slc12a6<gaxp>/GrsrJ Frozen Embryos | $2595.00 |
Frozen Mouse Embryo | C3H/HeSnJ-Slc12a6<gaxp>/GrsrJ Frozen Embryos | $2595.00 |
Frozen Mouse Embryo | C3H/HeSnJ-Slc12a6<gaxp>/GrsrJ Frozen Embryos | $3373.50 |
Frozen Mouse Embryo | C3H/HeSnJ-Slc12a6<gaxp>/GrsrJ Frozen Embryos | $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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