Article
A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse.
Proceedings of the National Academy of Sciences of the United States of America - 15 May 1992
Suter U, Moskow J J, Welcher A A, Snipes G J, Kosaras B, Sidman R L, Buchberg A M, Shooter E M
Abstract excerpt
Peripheral myelin protein PMP-22 is a potential growth-regulating myelin protein that is expressed by Schwann cells and predominantly localized in compact peripheral myelin. A point mutation in the Pmp-22 gene of inbred trembler (Tr) mice was identified and proposed to be responsible for the Tr phenotype, which is characterized by paralysis of the limbs as well as tremors and transient seizures. In support of...
Topics
- 3T3 Cells
- Amino Acid Sequence
- Animals
- Base Sequence
- DNA
- DNA Probes
- Heterozygote
- Leucine
- Mice
- Mice, Inbred C57BL
- Mice, Neurologic Mutants