Jolting mice carry a spontaneous, autosomal recessive mutation characterized by cerebellar ataxia and generalized tremor and exhibit progressive weakness due to a functional denervation of skeletal muscle attributed to abnormalities in the cerebellum.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Scn8a | sodium channel, voltage-gated, type VIII, alpha |
Jolting mice carry a spontaneous, autosomal recessive mutation characterized by cerebellar ataxia and generalized tremor and exhibit progressive weakness due to a functional denervation of skeletal muscle. The mutation results in substitution of Thr for an evolutionarily conserved Ala residue in the cytoplasmic S4-S5 linker of domain III. Abnormalities in the cerebellum are responsible for the gait problems of the jolting mouse, and preliminary morphological and neurophysiological examination of the mouse with motor end-plate disease has shown that it also has cerebellar abnormalities. Axonal spheroids may be seen on cerebellar Purkinje cell axons, and the character of extra-cellular recordings obtained from the Purkinje cells is abnormal.
The Scn8amed-jo mutation arose spontaneously in DBA/2WyDi. John Harris maintained this allele in Newcastle, UK from the early 1970s then passed it off to M Meisler. In March, 2000 The Jackson Laboratory received from M. Meisler heterozygous males labeled N5 which have been bred to C57BL/6J and are now maintained via backcross intercross.
Allele Name | jolting |
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Allele Type | Spontaneous |
Allele Synonym(s) | jo; medjo |
Gene Symbol and Name | Scn8a, sodium channel, voltage-gated, type VIII, alpha |
Gene Synonym(s) | |
Strain of Origin | DBA/2WyDi |
Chromosome | 15 |
Molecular Note | A transition point mutation that altered coding nucleotide 3949 from G-to-A, which replaces the alanine at residue 1317 with threonine (p.A1317T). The mutation is located in a region of the ion channel that is predicted to encode the cytoplasmic linker between integral membrane segments S4 and S5 in domain III. |
When using the B6.D2-Scn8amed-jo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #003799 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or wildtype for Scn8a<med-jo> |
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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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