The mutants can be detected at or shortly after weaning age (average age of onset 5 weeks +/-1.9; n=9). They are small, show body tremor, splayed hind limbs, and might advance with both hind limbs simultaneously, in a 'frog-like' manner. Intermittently, body spasms can be observed, which may be limited to one or the other hind- or fore limb, or to the head, neck, shoulder and front limb area, or include the whole body, so the animal needs to lie on its side. Either episode may last for several seconds. Because of the observed body spasms and splayed hind limbs, allele tests were performed with Cacna2d2 (calcium channel, voltage-dependent, alpha 2/delta subunit 2) or Cacnb4 (calcium channel, voltage-dependent, beta 4 subunit) mutants. The results showed NMF299 to be an allele of Cacna2d2, i.e. 2 heterozygous matings (w/ducky-2J) resulted in 2 affected mice in a total of 12 progeny. NMF299 are now backcrossed to the BALB/cByJ background. Standard pathology work-up on one mutant (57 days of age) showed no abnormalities, except body and organs to be small and immature. 

With special care and feeding mutants can live to over 2 months of age, without it, they may die as early as 4 weeks of age. Males are fertile, females may require ovarian transplants.

These mice carry an ENU-induced mutation characterized by body tremor, spasms, and abnormal hind leg movement.

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.

Typically mice are recovered in 12-16 weeks. Contact Customer Service to place an order or for more information.

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