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Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration
Misfolded proteins are associated with several pathological conditions including neurodegeneration. Although some of these abnormally folded proteins result from mutations in genes encodingExpand
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A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death.
The neurologic mutant mouse, oscillator, is characterized by a fine motor tremor and muscle spasms that begin at 2 weeks of age and progressively worsen, resulting in death by 3 weeks of age. WeExpand
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A major gene affecting age-related hearing loss in C57BL/6J mice
A major gene responsible for age-related hearing loss (AHL) in C57BL/6J mice was mapped by analyses of a (C57BL/6J x CAST/Ei) x C57BL/6J backcross. AHL, as measured by elevated auditory-evokedExpand
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Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome.
A spontaneous mutation causing deafness and circling behavior was discovered in a C3H/HeJ colony of mice at the Jackson Laboratory. Pathological analysis of mutant mice revealed gross morphologicalExpand
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A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice
Mouse deafness mutations provide valuable models of human hearing disorders and entry points into molecular pathways important to the hearing process. A newly discovered mouse mutation namedExpand
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Scrambler, a new neurological mutation of the mouse with abnormalities of neuronal migration
A novel spontaneous neurological mutation, scrambler (scm), appeared in the inbred mouse strain DC/Le (dancer) in 1991. Mice homozygous for this recessive mutation are recognized by an unstable gaitExpand
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Neuromuscular degeneration (nmd): a mutation on mouse Chromosome 19 that causes motor neuron degeneration
Neuromuscular degeneration, nmd, is a spontaneous autosomal recessive mutation in the mouse producing progressive hindlimb impairment caused by spinal muscular atrophy. We used an intersubspecificExpand
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The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndrome
Abstract. Tests for allelism among mice with four different mutant alleles at the shaker-with-syndactylism locus on mouse Chromosome (Chr) 18 provide evidence that the original radiation-inducedExpand
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Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis.
PURPOSE Cilia, complex structures found ubiquitously in most vertebrate cells, serve a variety of functions ranging from cell and fluid movement, cell signaling, tissue homeostasis, to sensoryExpand
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Chromosomal localization of the murine gene and two related sequences encoding high-mobility-group I and Y proteins.
HMG-I and its isoform HMG-Y are members of the abundant high-mobility-group of nonhistone chromatin proteins; they bind to A + T-rich regions of chromosomal DNA and are expressed at high levels inExpand
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