| First Author | Caddy KWT | Year | 1980 |
| Journal | Mouse News Lett | Volume | 63 |
| Pages | 13 | Mgi Jnum | J:24754 |
| Mgi Id | MGI:72479 | Citation | Caddy KWT (1980) Stumbler. Mouse News Lett 63:13 |
| abstractText | Full text of MNL contribution: Research News: A new autosomal recessive mutation, for which we suggest the name stumbler (gene symbol = stu), arose at the Jackson Laboratory in the C3H/HeJ strain, and was provided to us by Eicher. Affected animals are recognized from postnatal day 9 (P9) onward by delay in righting time, and from about P10 by awkward, stumbling gait. On the coisogenic background they die by about P21, but may live somewhat longer in F2 crosses with C57BL/6J. The cerebellum is small but has a normal folial pattern. Total number (but not concentration) of Purkinje and granule cell neurons is reduced by P10. Histological abnormalities in the cerebellar Purkinje neurons include reduced total volume, irregularly increased caliber, and abnormal branching patterns of dendrites, high concentration of normal-looking mitochondria in soma and dendrites, persistent somatic spines and filopodia at least to P21, and focal swellings on axons. These features distinguish stumbler from all other mutants. (Caddy, Sidman) |
