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.)
