These mice carry an ENU-induced recessive mutation resulting in ataxia.
The Jackson Laboratory cannot guarantee that cryorecovery of strains from the discontinued NIH-funded Neuroscience Mutagenesis Facility (NMF) will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.Read More +
The mutants are small and move slowly. Their hind limbs appear to be weak, and barely support their efforts of walking, so that the mice frequently loose their balance. Hind limbs also show intermittent spasms, with extension to the side or backward; there is no noticeable withdrawl reflex when gently pulling a leg. When lifting mutants by their tail, the hind limbs remain close to the body. The average onset of the phenotype is at 3 weeks of age (3.2 +/- 0.6 weeks; n=92). Because of phenotype similarities to Cacna1atg (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
), the tottering mutant, complementation tests were performed between nmf352 and B6.D2-Cacna1atg/J (JR#0544). The results, 3 mutants in a total of 5 progeny, indicate that NMF352 represents an allele of Cacna1atg. Standard pathology work-up on six mutants (22 days of age) revealed no abnormalities, except an atrophic thymus and hypoplastic bone marrow in two animals,
and a loss of red pulp in the spleen of one of these two animals.
These mutants are fragile and may not live to full maturity; a colony has to be maintained through ovarian transplants and heterozygote x heterozygote matings.
This phenotypic deviant was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males (Stock No. 000664), in the Neuroscience Mutagenesis facility at The Jackson Laboratory.
|Allele Name||tottering 6 Jackson|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||Cacna1anmf352; neuroscience mutagenesis facility, 352; NMF352; tottering-6J|
|Gene Symbol and Name||Cacna1a, calcium channel, voltage-dependent, P/Q type, alpha 1A subunit|
|Strain of Origin||C57BL/6J|
|Molecular Note||ENU mutagenesis induced a C to A point mutation in the exon 5 consensus splice acceptor sequence. This mutation results results in the skipping of exon 5 and the splicing of exon 4 directly to exon 6.|