Article
Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele.
Neuron - 1 Dec 1998
Cox G A, Mahaffey C L, Frankel W N
Abstract excerpt
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 amin...
Topics
- 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