Faculty Research 1990 - 1999
mnd2: a new mouse model of inherited motor neuron disease.
Document Type
Article
Publication Date
1993
Keywords
Chromosome-Mapping, Disease-Models-Animal, Electrophysiology, Heterozygote, Human, Intermediate-Filaments: pa, Lymphoid-Tissue: pa, Mice, Mice-Inbred-C57BL, Motor-Neuron-Disease: ge, pa, Motor-Neurons: pa, Mutation, Phosphorylation, Spinal-Cord: pa, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S, Time-Factors
First Page
669
Last Page
677
JAX Source
Genomics 1993 Jun;16(3):669-77
Grant
NS19613/NS/NINDS, NS01300/NS/NINDS, NS01381/NS/NINDS
Abstract
The autosomal recessive mutation mnd2 results in early onset motor neuron disease with rapidly progressive paralysis, severe muscle wasting, regression of thymus and spleen, and death before 40 days of age. mnd2 has been mapped to mouse chromosome 6 with the gene order: centromere-Tcrb-Ly-2-Sftp-3-D6Mit4-mnd2-D6Mit 6, D6Mit9-D6Rck132-Raf-1, D6Mit11-D6Mit12-D6Mit14, mnd2 is located within a conserved linkage group with homologs on human chromosome 2p12-p13. Spinal motor neurons of homozygous affected animals are swollen and stain weakly, and electromyography revealed spontaneous activity characteristic of muscle denervation. Myelin staining was normal throughout the neuraxis. The clinical observations are consistent with a primary abnormality of lower motor neuron function. This new animal model will be of value for identification of a genetic defect responsible for motor neuron disease and for evaluation of new therapies.
Recommended Citation
Jones JM,
Albin RL,
Feldman EL,
Simin K,
Schuster TG,
Dunnick WA,
Collins JT,
Chrisp CE,
Taylor BA,
Meisler MH.
mnd2: a new mouse model of inherited motor neuron disease. Genomics 1993 Jun;16(3):669-77