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.
journal_name
Genomicsjournal_title
Genomicsauthors
Jones JM,Albin RL,Feldman EL,Simin K,Schuster TG,Dunnick WA,Collins JT,Chrisp CE,Taylor BA,Meisler MHdoi
10.1006/geno.1993.1246subject
Has Abstractpub_date
1993-06-01 00:00:00pages
669-77issue
3eissn
0888-7543issn
1089-8646pii
S0888-7543(83)71246-2journal_volume
16pub_type
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