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 +
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 Synonym(s)||jo; medjo|
|Gene Symbol and Name||Scn8a, sodium channel, voltage-gated, type VIII, alpha|
|Strain of Origin||DBA/2WyDi|
|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.
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