Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele.
Alleles, Amino-Acid-Sequence, Animal, Base-Sequence, Chromosome-Mapping, DNA-Helicases: ge, Exons, Genes-Suppressor, Hamsters, Human, Mice, Mice-Inbred-CBA, Mice-Neurologic-Mutants, Molecular-Sequence-Data, Muscle-Skeletal: pa, Nerve-Degeneration: ge, pa, Neuromuscular-Diseases: ge, pa, Restriction-Mapping, Sequence-Deletion, Spinal-Cord: pa, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S
Neuron 1998 Dec;21(6):1327-37
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.
Cox, G A.; Mahaffey, C L.; and Frankel, W N., " Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele." (1998). Faculty Research 1990 - 1999. 1147.