| First Author | Cox GA | Year | 1998 |
| Journal | Neuron | Volume | 21 |
| Issue | 6 | Pages | 1327-37 |
| PubMed ID | 9883726 | Mgi Jnum | J:51890 |
| Mgi Id | MGI:1327085 | Doi | 10.1016/s0896-6273(00)80652-2 |
| Citation | Cox GA, et al. (1998) Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele. Neuron 21(6):1327-37 |
| abstractText | 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. |
