Overview

These mice carry two linked, spontaneous mutations, trembler-Jackson (Pmp22^Tr-J) and rex (Krt25^Re). 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.

Genetic overview

Genetic Background	Generation
000664 C57BL/6J

Krt25^Re

Allele Type	Gene Symbol	Gene Name
Spontaneous	Krt25	keratin 25

Pmp22^Tr-J

Allele Type	Gene Symbol	Gene Name
Spontaneous	Pmp22	peripheral myelin protein 22

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Research Applications

Neurobiology Research
Dermatology Research
Mouse/Human Gene Homologs

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Mice heterozygous for the trembler-Jackson spontaneous mutation (Pmp22^Tr-J) are similar to heterozygotes carrying the original trembler mutation (Pmp22^Tr). 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 (Krt25^Re) that is also located on Chromosome 11.

Development

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 (Krt25^Re) and heterozygous for varitant waddler Jackson (Mcoln3^Va-J) and Danforth?s short tail (Sd) in repulsion (a stock that became the C57BL/6ByJ congenic Stock #000126). The Sd/+ Pmp22^Tr-J +/+ Krt25^Re offspring were backcrossed to a B6.D2-Pmp22^Tr-J congenic heterozgyote and offspring were selected that lacked Sd and carried a recombined Chromosome 11 with Pmp22^Tr-J and Krt25^Re 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 Pmp22^Tr-J and Krt25^Re in coupling or wildtype for Krt25 and heterozygous for Pmp22^Tr-J, due to recombination in the previous backcross. Krt25 and Pmp22 are approximately 24 cM apart on Chromosome 11.

Genetics

Krt25^Re

Allele Symbol: Krt25^Re

Allele Name	rex
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).

Pmp22^Tr-J

Allele Symbol: Pmp22^Tr-J

Allele Name	trembler Jackson
Allele Type	Spontaneous
Allele Synonym(s)	Tr^J; 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).

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Charcot-Marie-Tooth disease type 1A

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Neurobiology Research
- Charcot-Marie-Tooth Disease

Genotype: Krt25^Re related

Dermatology Research
- Skin and Hair Texture Defects

Genotype: Pmp22^Tr-J related

Neurobiology Research
- Myelination Defects
- Tremor Defects
Mouse/Human Gene Homologs
- Charcot-Marie-Tooth disease

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Krt25^Re/Krt25^Re
B6.Cg-Pmp22 Krt25/+ +/J

endocrine/exocrine gland phenotype

enlarged sebaceous gland

growth/size/body region phenotype

decreased body size

integument phenotype

abnormal hair follicle morphology
- at 1 month, hair follicles are bent and shorter than in wild-type mice

abnormal hair shaft morphology
- at 1 month, hair shafts are fragile

curly vibrissae
- beginning at 1 month of age, whiskers are irregular and fragile

enlarged sebaceous gland

waved hair
- beginning at 1 month of age pelage is wavy compared to wild-type mice but this waviness becomes weaker as mice age

Genotype: Pmp22^Tr-J/Pmp22⁺
B6.Cg-Pmp22 Krt25/+ +/J

cellular phenotype

abnormal autophagy
- autophagy is induced in neuropathic mouse nerves unlike in wild-type mice
- Normal - however, experimentally induced autophagy and or/ chaperones hinders Pmp22 protein aggregation

abnormal cell physiology
- proteosome activity is impaired

homeostasis/metabolism phenotype

abnormal autophagy
- autophagy is induced in neuropathic mouse nerves unlike in wild-type mice
- Normal - however, experimentally induced autophagy and or/ chaperones hinders Pmp22 protein aggregation

nervous system phenotype

abnormal action potential
- at 30 days of age, compound muscle action potential (CMAP) amplitude is reduced 85%, distal motor latency is prolonged 112%, conduction velocity is reduced 81%, and CMAP duration is increased 253% compared to in wild-type mice
- at 72 days of age, CMAP amplitude is reduced 87%, distal motor latency is prolonged 77%, conduction velocity is reduced 72%, and CMAP duration is increased 326% compared to in wild-type mice

demyelination
- at 72 days, mice exhibit severe hypomyelination and the number of myelinated nerves is decreased compared to in wild-type mice
- 'onion bulb' formations are evidence of repetitive cycles of demyelination and remyelination

References

Additional References

Henry EW; Cowen JS; Sidman RL. 1983. Comparison of Trembler and Trembler-J mouse phenotypes: varying severity of peripheral hypomyelination. J Neuropathol Exp Neurol 42(6):688-706PubMed: 6313869 MGI: J:7222
Suter U; Moskow JJ; Welcher AA; Snipes GJ; Kosaras B; Sidman RL; Buchberg AM; Shooter EM. 1992. A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse. Proc Natl Acad Sci U S A 89(10):4382-6PubMed: 1374899 MGI: J:1058

Additional - Krt25^Re related

Additional - Pmp22^Tr-J related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Citation
When using the B6.Cg-Pmp22^Tr-J Krt25^Re/+ +/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #000568 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous or Wild-type for Krt25<Re>, Heterozygous or Wild-type for Pmp22<Tr-J>

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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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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Licensing Information

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Genetic overview

Research Applications

Base Price

Detailed Description

Development

Krt25Re

Allele Symbol: Krt25Re

Pmp22Tr-J

Allele Symbol: Pmp22Tr-J

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Krt25Re related

Genotype: Pmp22Tr-J related

Mammalian Phenotype Terms by Genotype

Genotype: Krt25Re/Krt25ReB6.Cg-Pmp22 Krt25/+ +/J

endocrine/exocrine gland phenotype

growth/size/body region phenotype

integument phenotype

Genotype: Pmp22Tr-J/Pmp22+B6.Cg-Pmp22 Krt25/+ +/J

cellular phenotype

homeostasis/metabolism phenotype

nervous system phenotype

References

Additional References

Additional - Krt25Re related

Additional - Pmp22Tr-J related

Genotyping Protocols

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Krt25^Re

Allele Symbol: Krt25^Re

Pmp22^Tr-J

Allele Symbol: Pmp22^Tr-J

Genotype: Krt25^Re related

Genotype: Pmp22^Tr-J related

Genotype: Krt25^Re/Krt25^Re
B6.Cg-Pmp22 Krt25/+ +/J

Genotype: Pmp22^Tr-J/Pmp22⁺
B6.Cg-Pmp22 Krt25/+ +/J

Additional - Krt25^Re related

Additional - Pmp22^Tr-J related