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Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele.

Neuron | Dec 26, 1998

The nmd mouse mutation causes progressive degeneration of spinal motor neurons and muscle atrophy. We identified the mutated gene as the putative transcriptional activator and ATPase/DNA helicase previously described as Smbp2, Rip1, Gf1, or Catf1. Mutations were found in two alleles-a single amino acid deletion in nmdJ and a splice donor mutation in nmd2J. The selective vulnerability of motor neurons is striking in view of the widespread expression of this gene, although the pattern of degeneration may reflect a specific threshold since neither allele is null. In addition, the severity of the nmd phenotype is attenuated in a semidominant fashion by a major genetic locus on chromosome (Chr) 13. The identification of the nmd gene and mapping of a major suppressor provide new opportunities for understanding mechanisms of motor neuron degeneration.

Pubmed ID: 9883726 RIS Download

Mesh terms: Adenosine Triphosphatases | Alleles | Amino Acid Sequence | Animals | Base Sequence | Chromosome Mapping | Cricetinae | DNA Helicases | Exons | Genes, Suppressor | Humans | Mice | Mice, Inbred CBA | Mice, Neurologic Mutants | Molecular Sequence Data | Muscle, Skeletal | Nerve Degeneration | Neuromuscular Diseases | Restriction Mapping | Sequence Deletion | Spinal Cord

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Associated grants

  • Agency: NCI NIH HHS, Id: CA34196
  • Agency: NINDS NIH HHS, Id: NS31348

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