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

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Abstract

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 nmd(J) and a splice donor mutation in nmd(2J). 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.

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Cox, G. A., Mahaffey, C. L., & Frankel, W. N. (1998). Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele. Neuron, 21(6), 1327–1337. https://doi.org/10.1016/S0896-6273(00)80652-2

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