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

Neuron. 1998 Dec;21(6):1327-37. doi: 10.1016/s0896-6273(00)80652-2.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenosine Triphosphatases / chemistry
  • Adenosine Triphosphatases / genetics*
  • Alleles
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Chromosome Mapping*
  • Cricetinae
  • DNA Helicases / chemistry
  • DNA Helicases / genetics*
  • Exons
  • Genes, Suppressor*
  • Humans
  • Mice
  • Mice, Inbred CBA
  • Mice, Neurologic Mutants
  • Molecular Sequence Data
  • Muscle, Skeletal / pathology
  • Nerve Degeneration / genetics*
  • Nerve Degeneration / pathology
  • Neuromuscular Diseases / genetics*
  • Neuromuscular Diseases / pathology
  • Restriction Mapping
  • Sequence Deletion*
  • Spinal Cord / pathology


  • Adenosine Triphosphatases
  • DNA Helicases

Associated data

  • GENBANK/AF011644
  • GENBANK/L10075
  • GENBANK/L38575
  • GENBANK/L38576
  • GENBANK/X97268