These mice carry two linked, spontaneous mutations, trembler-Jackson (Pmp22Tr-J) and rex (Krt25Re). They are characterized by becoming progressively disabled with inability to walk and right themselves. The rex mutation is characterized by curly whiskers and wavy coats.
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 | Krt25 | keratin 25 |
Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Pmp22 | peripheral myelin protein 22 |
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 suggests that peripheral myelin is not essential for survival. The PNS is nearly devoid of myelin with myelinogenesis blocked in the promyelin stage. Schwann cells ensheathe individual axons but without formation of compact myelin. This C57BL/6 congenic strain is also carrying the dominant rex spontaneous mutation (Krt25Re) that is also located on Chromosome 11.
The trembler Jackson mutation arose spontaneously in the DBA/2J inbred strain at The Jackson Laboratory in 1967. This dominant mutation was maintained by backcrossing to C57BL/6J, reaching N14 in 1976. A female heterozygote was then bred to a male homozygous for rex (Krt25Re) and heterozygous for varitant waddler Jackson (Mcoln3Va-J) and Danforth?s short tail (Sd) in repulsion (a stock that became the C57BL/6ByJ congenic Stock #000126). The Sd/+ Pmp22Tr-J +/+ Krt25Re offspring were backcrossed to a B6.D2-Pmp22Tr-J congenic heterozgyote and offspring were selected that lacked Sd and carried a recombined Chromosome 11 with Pmp22Tr-J and Krt25Re in coupling. This double mutant was backcrossed repeatedly to C57BL/6J and C57BL/6JEi, reaching N3 in 1978. In 1984 embryos were cryopreserved from C57BL/6J males bred to backcross generation N19 females that were either heterozygous for both Pmp22Tr-J and Krt25Re in coupling or wildtype for Krt25 and heterozygous for Pmp22Tr-J, due to recombination in the previous backcross. Krt25 and Pmp22 are approximately 24 cM apart on Chromosome 11.
Allele Name | rex |
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Allele Type | Spontaneous |
Allele Synonym(s) | Re |
Gene Symbol and Name | Krt25, keratin 25 |
Gene Synonym(s) | |
Strain of Origin | Outbred |
Chromosome | 11 |
Molecular Note | This allele contains a nucleotide substitution that results in an amino acid substitution of proline for leucine at position 381 (L381P). |
Allele Name | trembler Jackson |
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Allele Type | Spontaneous |
Allele Synonym(s) | TrJ; trembler-j; TrJ |
Gene Symbol and Name | Pmp22, peripheral myelin protein 22 |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 11 |
Molecular Note | Sequence analysis of cDNA showed a T-to-C transition at coding nucleotide 47 resulting in the substitution of a leucine residue by a proline residue at position 16 (p.L16P). |
When using the B6.Cg-Pmp22Tr-J Krt25Re/+ +/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #000568 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or Wild-type for Krt25<Re>, Heterozygous or Wild-type for Pmp22<Tr-J> |
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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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