Faculty Research 1990 - 1999

Title

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

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.