This comparatively mild point mutation in the second transmembrane domain provides an excellent model for Dejerine-Sottas syndrome, Roussy-Levy syndrome, recurrent neuropathy with pressure palsies, and types 1A and 1E Charcot-Marie-Tooth disease.
Read More +Genetic Background | Generation |
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000664 C57BL/6J |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Pmp22 | peripheral myelin protein 22 |
Trembler 2 Jackson heterozygotes can be identified by approximately 3 weeks of age by a rapid tremor and unsteady, wobbly gait. They have spasticity in the muscles of the lower back and limbs and reduced ability to organize the hind limb movements. These phenotypes derive from peripheral demyelination. Although heterozygotes for this allele have not been found to die prematurely, male fertility is reduced. Some, but not all, heterozygotes have elevated auditory brainstem responses. This allele causes a less severe phenotype than the trembler mutation, with no paralysis, seizures, or juvenile mortality.
The trembler 2 Jackson mutation arose spontaneously in 2012 in a C57BL/6J mutant subline that had a spontaneous mutation in a gene on Chromosome 1. Genotyping confirmed that the Chromosome 1 mutation was absent from this new mutant subline. The trembler 2 Jackson mutation has been maintained by continuous backcross of heterozygous females with C57BL/6J males. In 2013 this coisogenic strain reached N3.
Allele Name | trembler 2 Jackson |
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Allele Type | Spontaneous |
Allele Synonym(s) | |
Gene Symbol and Name | Pmp22, peripheral myelin protein 22 |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 11 |
Molecular Note | This spontaneous C-to-A transversion on chromosome 11 position 6,3151,168 (GRCm38) changes a codon in exon 4 and causes a serine to arginine substitution at amino acid 76 (p.S76R), which is in the second transmembrane domain. |
Because heterozygous males often fail to breed it is best to use heterozygous females to transmit this dominant mutation.
When using the C57BL/6J-Pmp22Tr-2J/GrsrJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #021550 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or wildtype for Pmp22<Tr-2J> |
Frozen Mouse Embryo | C57BL/6J-Pmp22<Tr-2J>/GrsrJ Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | C57BL/6J-Pmp22<Tr-2J>/GrsrJ Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | C57BL/6J-Pmp22<Tr-2J>/GrsrJ Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | C57BL/6J-Pmp22<Tr-2J>/GrsrJ Frozen Embryo | $3373.50 |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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