This strain is segregating for tk and Cacna2d2du, which are maintained in repulsion.
Mice homozygous for the ducky spontaneous mutation (Cacna2d2du) show a waddling or reeling gait and a tendency to fall to one side. Homozygous mutant mice are slightly smaller than normal and may occasionally have seizures. Histologically, homozygotes show severe dysgenesis of hindbrain and spinal cord, myelin deficiency that is more marked the more caudad the CNS region, and demyelination and axonal dystrophy in selective fiber systems including the spinocerebellar and vestibulospinal tracts. There is a deficit of cerebrosides in the hindbrain and spinal cord, but other lipid classes are present in normal amounts relative to the size of the CNS. Viability is somewhat less than normal. Males living to maturity may be fertile, but are poor breeders. Females rarely breed. In mice homozygous for either Cacna2d2du or Cacna2d2du-2J, no loss of Purkinje cells or granular cells was seen by immunohistochemistry for calbindin or calretinin respectively. (Barclay et al., 2001.) This strain also carries the tail kinks spontaneous mutation (tk) in repulsion with ducky and is homozygous for dilute (Myo5ad).
|Gene Symbol and Name||Cacna2d2, calcium channel, voltage-dependent, alpha 2/delta subunit 2|
|Strain of Origin||Non-inbred stock|
|General Note|| |
Genbank ID for this allele: AF247140, AF247141, AF247142
|Molecular Note||A genomic rearrangement in which a head to tail duplication of Cacna2d2 exons 2-39 and and additional region of unknown length is followed by a deletion of exons 4-39 of the original Cacna2d2 gene. Two mutant transcripts are produced from this locus at low levels, but neither are likely to encode functional proteins.|