This strain is homozygous for the retinal degeneration allele Pde6brd1.
Cerebellar deficient folia (cdf) is a recessive mutation which maps to chromosome 6. Homozygotes display a constant side-to-side wobble in their gait that is apparent as early as 2 weeks of age. Additionally, they often hold their tails off the surface or arch them over their heads while moving. Smaller size is detectable in homozygotes by two weeks of age, at weaning they weigh approximately 25% less than littermate controls, and as adults they weigh, on average, 50% less. These mutants live a normal life span (one-and-a-half to two years on the C3H/HeJ background), but homozygous males rarely breed and homozygous females are poor mothers requiring transfer of litters to foster mothers.
The cdf mutation causes a hypoplastic and dysmorphic cerebellum. On the C3H/HeJ background, homozygotes have only 7 cerebellar folia rather than the 10 present in wildtype, and the folia pattern is abnormal. Their vermis is one-third smaller than wildtype in rostro-caudal length and the ventral vermis contains concentric mineral deposits. Ectopic Purkinje cells (mostly zebrin II-negative) are in the deep core of the cerebellum between the cerebellar nuclei, in the granular cell layer, and in the intralobular white matter. BrdU analysis indicates that these ectopic Purkinje cells, like Pukinje cells in wildtype mice, are generated during embryonic days 11-13. The overall number of Purkinje cells in homozygotes is relatively normal. The Perkinje cell defect appears to result from a failure in dispersion of the zebrin II-negative subpopulation. (Cook et al., 1997; Beierbach et al., 2001.)
The cerebellar deficient folia mutation (cdf) arose spontaneously in the coisogenic mutant subline C3H/HeJ-Pou1f1dw-J/J in 1986, when that mutant subline was at generation F136+16N6F8. The cdf mutant line was initially maintained by sibling inbreeding through progeny tested heterozygotes and selecting away the dwarf Jackson mutation. In 1989, when this mutant subline was at F10, it was outcrossed to C3H/HeSnJ then maintained predominantly by backcross-intercross to C3H/HeSnJ, reaching N6 in 1992. It was then maintained by sibling inbreeding and between 1994 and 1996 embryos were cryopreserved from C3H/HeSnJ females bred to heterozygous males at generation F10N6F4 and beyond.
|Allele Name||cerebellar deficient folia|
|Gene Symbol and Name||Ctnna2, catenin (cadherin associated protein), alpha 2|
|Strain of Origin||C3H/HeJ-Pou1f1dw-J/J|
|Molecular Note||This mutation was discovered in a mouse colony in 1985 at The Jackson Laboratory. The phenotype has been attributed to a deletion of ~150 kb that includes the 3' UTR and sequences encoding the last 96 amino acids of the gene.|
When using the cerebellar deficient folia mouse strain in a publication, please cite the originating article(s) and include JAX stock #002235 in your Materials and Methods section.
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