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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
1999-1-26
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pubmed:databankReference |
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pubmed: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.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0896-6273
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
21
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1327-37
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:9883726-Adenosine Triphosphatases,
pubmed-meshheading:9883726-Alleles,
pubmed-meshheading:9883726-Amino Acid Sequence,
pubmed-meshheading:9883726-Animals,
pubmed-meshheading:9883726-Base Sequence,
pubmed-meshheading:9883726-Chromosome Mapping,
pubmed-meshheading:9883726-Cricetinae,
pubmed-meshheading:9883726-DNA Helicases,
pubmed-meshheading:9883726-Exons,
pubmed-meshheading:9883726-Genes, Suppressor,
pubmed-meshheading:9883726-Humans,
pubmed-meshheading:9883726-Mice,
pubmed-meshheading:9883726-Mice, Inbred CBA,
pubmed-meshheading:9883726-Mice, Neurologic Mutants,
pubmed-meshheading:9883726-Molecular Sequence Data,
pubmed-meshheading:9883726-Muscle, Skeletal,
pubmed-meshheading:9883726-Nerve Degeneration,
pubmed-meshheading:9883726-Neuromuscular Diseases,
pubmed-meshheading:9883726-Restriction Mapping,
pubmed-meshheading:9883726-Sequence Deletion,
pubmed-meshheading:9883726-Spinal Cord
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pubmed:year |
1998
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pubmed:articleTitle |
Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele.
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pubmed:affiliation |
The Jackson Laboratory, Bar Harbor, Maine 04609, USA. gac@jax.org
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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