Mice that are homozygous for this Tbce, tubulin-specific chaperone e, spontaneous mutation, pmn, are viable but die prematurely on the STOCK, NMRI/Pan outbred, background. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy, muscular atrophy, motor neuronopathy and neurodegeneration.
Michael Sendtner, University of WuerzburgRead More +
Mice that are homozygous for this spontaneous mutation are viable but die prematurely. Onset of locomotor impairment with corresponding motor neuron and muscular degeneration occurs at 2 to 3 weeks of age. Atrophy and paralysis starts in the hind limbs and pelvic girdle and is progressive. Homozygotes die by 6 to 7 weeks of age due to respiratory failure. Neurodegeneration starts in the motor endplates, progresses to loss of axons and results in apoptosis of the cell bodies. Electrophysiological deficiencies are detected by 13 days of age, before the neurodegeneration is clinically visible. Electron microscopic analysis of sciatic and phrenic nerves reveals a reduced number of microtubules. TBCE protein is destabilized, producing a reduction in tubulin and microtubules in motor neuron axons. Progressive microtubule loss occurs in axons distal to proximal and corresponds to axon degeneration. The mutation arose in the NMRI/Pan outbred line and has been identified as a Trp524Gly substitution (T1570G transversion) of the Tbce, tubulin-specific chaperone e, gene. Heterozygotes are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This mutant mouse strain may be useful in studies of Spinal Muscular Atrohpy, muscular atrophy, motor neuronopathy and neurodegeneration.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.
The mutation was first recorded at the Panum Institute (Kopenhagen, Denmark) in 1988. The mutation arose in the NMRI/Pan outbred line and has been identified as a Trp524Gly substitution of the Tbce, tubulin-specific chaperone e, gene. The mice have been crossed to the NMRI outbred background for 32 generations. Upon arrival at The Jackson Laboratory the mice were backcrossed to FVB/NJ mice using a speed congenic protocol.
|Allele Name||progressive motor neuronopathy|
|Allele Synonym(s)||TbceG; pmn; progressive motor neuropathy|
|Gene Symbol and Name||Tbce, tubulin-specific chaperone E|
|Gene Synonym(s)||2610206D02Rik; 2610206D02Rik; C530005D02Rik; C530005D02Rik; HRD; KCS; KCS1; RIKEN cDNA 2610206D02 gene; RIKEN cDNA C530005D02 gene; pac2; pmn; progressive motor neuropathy|
|Strain of Origin||NMRI/Pan|
|General Note||This mutation was identified in 1988 at the Panum Institute in Copenhagen.|
|Molecular Note||The mutation has been identified as T to G transversion, resulting in a Trp524Gly amino acid substitution in the encoded protein. Northern analysis detected no difference in transcript levels between mutant and wild-type mice. That the mutation was duea defect in Tbce was demonstrated through complementation with a line expressing a Tbce transgene.|
|Mutations Made By|| |
Michael Sendtner, University of Wuerzburg
When maintaining a live colony, these mice can be bred as heterozygotes. Homozygotes are viable but die by 6 to 7 weeks of age on the STOCK background.
|Please inquire about possible genotypes.|
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided,
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