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

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


  • Cox GA
  • Mahaffey CL
  • Frankel WN



Publication Data

December 26, 1998

Associated Grants

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

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