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 amino acid deletion in nmdJ and a splice donor mutation in nmd2J. The selective vulnerability of motor neurons is striking...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.