Search Criteria: Research Area is "Mouse/Human Gene Homologs: Charcot-Marie-Tooth disease"
| Stock Number |
Strain Name Strain Description |
Standard Supply |
| 002504 | B6.D2-Pmp22Tr-J/J | Repository- Live |
| Mice heterozygous for the trembler-Jackson spontaneous mutation (Pmp22Tr-J) are similar to heterozygotes carrying the original trembler mutation (Pmp22Tr). However, the behavior and neuropathology of trembler-Jackson heterozygotes is less severe. The tremor phenotype cannot be reliably recognized before 20 to 25 days. There are no obvious seizures and only a mild gait abnormality. In the PNS, the myelin deficiency is considerably less severe than that of trembler mice. Homozygous trembler-Jackson mice are recognizable by 8 days of age after which they become progressively disabled. Homozygous mutant mice are unable to walk normally and can right themselves only with great difficulty; most are dead by 18 days. It should be noted that although trembler homozygotes are more severely demyelinated than trembler-Jackson homozygotes, the trembler mice live a normal lifespan while trembler-Jackson mice die prior to weaning. Survival of trembler homozygotes ..... For more information please see the full phenotype on the strain data sheet | ||
| 017800 | B6.Cg-Fig4plt1/MmJ | Under Development - Now Accepting Orders |
| The pale tremor (plt) allele is a spontaneous retrotransposon insertion in the Fig4 gene. FIG4, a lipid phosphatase homolog of the yeast SAC (suppressor of actin), catalyzes removal of a phosphate from PI(3.5)P2, a membrane-bound phospholipid involved in the trafficking and fusion of intracellular vesicles. Mutations in human FIG4 are associated with Charcot-Marie-Tooth disease type 4J (CMT4J). Initially identified by tremors, an abnormal gait, which progresses to a loss of mobility, small size, juvenile lethality and diluted pigmentation, homozygous mice are characterized by spongiform degeneration of the brain and loss of neurons from peripheral ganglia. Neuron loss and accumulation of cytoplasmic vacuoles is observed in layers 4 and 5 of the cortex, deep cerebellar nuclei, and dorsal root ganglia. Homozygote survival is dependent on strain background. On the C57BL/6 background, homozygotes are neonatal lethal; on a C3H background homozygotes survive to two weeks; o ..... For more information please see the full phenotype on the strain data sheet | ||
| 017801 | C3Fe.Cg-Fig4plt1/MmJ | Under Development - Now Accepting Orders |
| The pale tremor (plt) allele is a spontaneous retrotransposon insertion in the Fig4 gene. FIG4, a lipid phosphatase homolog of the yeast SAC (suppressor of actin), catalyzes removal of a phosphate from PI(3.5)P2, a membrane-bound phospholipid involved in the trafficking and fusion of intracellular vesicles. Mutations in human FIG4 are associated with Charcot-Marie-Tooth disease type 4J (CMT4J). Initially identified by tremors, an abnormal gait, which progresses to a loss of mobility, small size, juvenile lethality and diluted pigmentation, homozygous mice are characterized by spongiform degeneration of the brain and loss of neurons from peripheral ganglia. Neuron loss and accumulation of cytoplasmic vacuoles is observed in layers 4 and 5 of the cortex, deep cerebellar nuclei, and dorsal root ganglia. Homozygote survival is dependent on strain background. On the C57BL/6 background, homozygotes are neonatal lethal; on a C3HeB/FeJ background homozygotes survive to two we ..... For more information please see the full phenotype on the strain data sheet | ||
| 000568 | B6.Cg-Pmp22Tr-J Krt25Re/+ +/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the trembler-Jackson spontaneous mutation (Pmp22Tr-J) are similar to heterozygotes carrying the original trembler mutation (Pmp22Tr). However, the behavior and neuropathology of trembler-Jackson heterozygotes is less severe. The tremor phenotype cannot be reliably recognized before 20 to 25 days. There are no obvious seizures and only a mild gait abnormality. In the PNS, the myelin deficiency is considerably less severe than that of trembler mice. Homozygous trembler-Jackson mice are recognizable by 8 days of age after which they become progressively disabled. Homozygous mutant mice are unable to walk normally and can right themselves only with great difficulty; most are dead by 18 days. It should be noted that although trembler homozygotes are more severely demyelinated than trembler-Jackson homozygotes, the trembler mice live a normal lifespan while trembler-Jackson mice die prior to weaning. Survival of trembler homozygotes ..... For more information please see the full phenotype on the strain data sheet | ||
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