Overview

Hemizygous males carrying the X-linked jimpy spontaneous mutation (Plp1^jp) appear normal when sitting quietly, but beginning at about 3 weeks of age they show a marked tremor of the hindquarters when attempting movement. After 3 weeks of age convulsions may occur. These males die between 20 and 40 days of age. In males, the CNS is very deficient in myelin, but the PNS is normally myelinated. Heterozygous jimpy females have normal lifespans with no overt phenotype. However, jimpy heterozygous females are reported to have reduced numbers of oligodendrocytes compared to wildtype females. While the mutation is recessive, only partial phenotypic rescue was attained by the transgenic expression of the two major isoforms, PLP and DM20, suggesting a dominant negative action from this allele (Nandon et al., 1994). This stock is also carrying the X-linked tabby mutation (Eda^Ta).

Genetic overview

Genetic Background	Generation

Plp1^jp

Allele Type	Gene Symbol	Gene Name
Spontaneous	Plp1	proteolipid protein (myelin) 1

A^w-J

Allele Type	Gene Symbol	Gene Name
Spontaneous	a	nonagouti

Eda^Ta

Allele Type	Gene Symbol	Gene Name
Spontaneous	Eda	ectodysplasin-A

View Genetics

Research Applications

Dermatology Research
Developmental Biology Research
Sensorineural Research
Mouse/Human Gene Homologs
Neurobiology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Important Note

This strain is heterozygous for Plp1^jp and Eda^Ta maintained on the same X chromosome.

Detailed Description

Hemizygous males carrying the X-linked jimpy spontaneous mutation (Plp1^jp) appear normal when sitting quietly, but beginning at about 3 weeks of age they show a marked tremor of the hindquarters when attempting movement. After 3 weeks of age convulsions may occur. These males die between 20 and 40 days of age. In males, the CNS is very deficient in myelin, but the PNS is normally myelinated. Heterozygous jimpy females have normal lifespans with no overt phenotype. However, jimpy heterozygous females are reported to have reduced numbers of oligodendrocytes compared to wildtype females. While the mutation is recessive, only partial phenotypic rescue was attained by the transgenic expression of the two major isoforms, PLP and DM20, suggesting a dominant negative action from this allele (Nandon et al., 1994). This stock is also carrying the X-linked tabby mutation (Eda^Ta).

Development

The tabby (Eda^Ta) and jimpy (Plp1^jp) mutations were imported to The Jackson Laboratory together from Dr. Mary Lyon at Harwell in 1961. Tabby had arisen spontaneously in a strain selected for large size (Falconer DS 1953. Z Indukt Abstammungs-Vererbungsl 85:210-19) and jimpy arose in an inbred line (Philips RJS. 1954. Z Indukt Abstammungs Vererbungsl 86:322-6) in 1954. The imported stock was segregating for other loci but tabby and jimpy, linked and located on the X Chromosome, were maintained by sibling matings generally of the Eda^Ta Plp1^jp/+ + genotype crossed to a Ta/Y or +/Y male. In 1965 at approximately generation F6 a Eda^Ta Plp1^jp/+ + female was outcrossed to a C57BL/6J-A^w-J male and pairs were mated. At F3 a Eda^Ta Plp1^jp/+ + female was again crossed to a C57BL/6J-A^w-J male. The stock was then continually backcrossed into the C57BL/6J-A^w-J strain to N10. At N11 a cross of a Eda^Ta Plp1^jp/+ + female was made to a CBA/Ca male and in the next generation a Eda^Ta Plp1^jp/+ + female was crossed to the B6CBACa F1 hybrid male and the stock was then bred by crossing to the hybrid male each generation. It was cryopreserved in 1981 by mating Eda^Ta Plp1^jp-?/+ + females at N71 to B6CBACa-A^w-J/A F1 males.

Control Suggestions

Untyped from the colony

Additional Information

Considerations for Choosing Controls

Genetics

Plp1^jp

Allele Symbol: Plp1^jp

Allele Name	jimpy
Allele Type	Spontaneous
Allele Synonym(s)	jp
Gene Symbol and Name	Plp1, proteolipid protein (myelin) 1
Gene Synonym(s)
Strain of Origin	(KLM STOCK x XY STOCK)F1
Chromosome	X
Molecular Note	Sequence analysis showed that this allele carries an A-to-G base change at the 3' splice acceptor site of intron 4, eliminating the exon 5 splice acceptor site by changing it from ATG to TGG.

A^w-J

Allele Symbol: A^w-J

Allele Name	white bellied agouti Jackson
Allele Type	Spontaneous
Allele Synonym(s)	A^WJ
Gene Symbol and Name	a, nonagouti
Gene Synonym(s)
Strain of Origin	C57BL/6J
Chromosome	2

Eda^Ta

Allele Symbol: Eda^Ta

Allele Name	tabby
Allele Type	Spontaneous
Allele Synonym(s)	Ta; Ta^f; Ta^Fa; Ta3
Gene Symbol and Name	Eda, ectodysplasin-A
Gene Synonym(s)
Strain of Origin	stock including A, C57BL, CBA, and RIII
Chromosome	X
General Note	This mutation arose in a strain selected for large size. Hemizygous mutant males breed satisfactorily, but homozygous mutant females are often sterile. Hemizygous mutant females are fully fertile (J:249).Hemizygous males and homozygous females are identical in phenotype with homozygous crinkled (Edaradd^cr) and downless (Edar^dl) mice and with homozygous or heterozygous sleek (Dl^slk) mice. They are characterized by absence of guard hairs and zigzags in the coat, a bald patch behind the ear, bald tail with a few kinks near the tip, reduced aperture of the eyelids, a respiratory disorder, and a modified agouti pattern (J:249). The number of vibrissae is reduced (J:14912). The incisors may be reduced or absent, and the molars are usually smaller than normal with the third molar often absent (J:5018, J:5138). There are defects of many endocrine glands. The structures affected by the mutation all arise embryologically as downgrowths of solid epithelial cords, not by invagination with a lumen or by outgrowths from deep grooves (J:5246).Hemizygous mutant females are most easily recognized if they are agouti, in which case they show transverse stripes of light-colored normal and dark tabby hair. They have normal incisors but may have mutant or intermediate-type molars (J:5138). A small proportion of heterozygous females may show some slight defects of some of the exocrine glands (J:5193).In the development of the coat of homozygous and hemizygous mutant mice, hair follicle initiation begins at 17 days of gestation, 3 days later than normal, and ends 1 or 2 days after birth, several days earlier than normal. The hairs are of only one type and resemble abnormal awls (J:12100, J:5137). By use of dermal--epidermal recombination grafts of embryonic flank skin, it was shown that Eda^Ta acts in the epidermis in its effects on structure of the hairs (J:6041). The effect of the mutation in preventing growth of hair on the tail may be either dermal or epidermal. The mutation may act directly on hair cells or via a diffusible product (J:7450). The phenotype of Eda^Ta/+ females has been extensively studied because of its relevance to the X-inactivation theory of dosage compensation (J:5018, J:5238).Eda^Ta and the related mutations Edaradd^cr and Edar^dl disrupt normal development of certain epidermal derivatives, including sweat glands. Although the sensory innervation of footpad skin and the sympathetic innervation of blood vessels in the foot pad is normal in these mutants, the sympathetic fibers that normally innervate the sweat glands fail to develop (J:19910).A candidate gene for the human familial X-linked disorder hypohidrotic ectodermal dysplasia (EDA)(OMIM 305100) has been partially cloned. Eda, a candidate for which has also been cloned, is the homologous gene in the mouse, on the basis of phenotype - hypoplasia of sweat glands, teeth, and hair - and of homologous mapping. There is high sequence identity between the cloned portions of the two genes. Known Eda mutations have been identified in the candidate mouse gene. An extracellular collagenous domain of the mouse gene, not yet identified in the EDA gene, may represent the location of mutations in 85-90% of human families (J:42614). A mouse gene Eda (ectodysplasin-A) has been proposed as the site of the tabby mutations (J:44605).Exogenous epidermal growth factor can reverse phenotypic features of Eda^Ta mice, advancing the delayed opening of eyelids and eruption of incisors (J:42661) and inducing development of dermal ridges and functional sweat glands (J:42660). Expression of epidermal growth factor receptor is reduced in EDA and in Eda^Ta mice (J:33361).
Molecular Note	This allele is characterized by an ~ 2 kb deletion: Genomic DNA was hybridized with an exon 1 probe showing a deletion including the coding region and primers for DNA flanking exon 1 failed to amplify in a PCR assay.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Eda^Ta related

Dermatology Research
- Color and White Spotting Defects
- Skin and Hair Texture Defects
Developmental Biology Research
- Eye Defects
Sensorineural Research
- Eye Defects
Mouse/Human Gene Homologs
- hypohidrotic ectodermal dysplasia

Genotype: Plp1^jp related

Neurobiology Research
- Myelination Defects
- Tremor Defects
Mouse/Human Gene Homologs
- Pelizaeus-Merzbacher disease

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Plp1^jp/Plp1⁺
B6CB-A/A Eda Plp1

nervous system phenotype

astrocytosis

Genotype: Plp1^jp/Y
Not Specified

behavior/neurological phenotype

environmentally induced seizures
- -type mice
- when disturbed or handled mice exhibit convulsions characterized by body tension with head thrown back, fore limbs scrabbling and hind limbs stretched sideways for about 5 seconds sometimes followed by rigid extensor tetanus lasting 20 seconds unlike wild-type mice

hindlimb paralysis
- observed in some mice

paraparesis
- some animals exhibit hindlimb weakness by weaning age

tonic-clonic seizures
- generalized seizures without focal onset occur by 4 weeks of age

tremors
- mice exhibit intention tremors
- tremors are first observed at about10-12 days of age

nervous system phenotype

abnormal astrocyte morphology
- freeze-etching of optic nerves shows that plasmalemma of astrocytes have twice normal numbers of assemblies of 7nm particles, which are similar to type III gap junctions, and these appear to unite abnormally with type I junctions

abnormal brain morphology
- brain contains traces of cholesterol ester

abnormal brain white matter morphology
- cytoplasmic nonpolar lipids are observed in the basis pedunculi, optic tract and white matter of the cerebellum and spinal cord; these cells appear to be fatty macrophages and are first observed in the 12 day old brain

abnormal myelin sheath morphology
- freeze-etching of optic nerves shows abnormally smooth protoplasmic fracture faces and exoplasmic fracture faces and there are fewer than normal intramyelinic tight junctions

abnormal myelination
- general architecture of gray and white matter is normal
- little myelin is found in any region of the central nervous system
- myelination is observed in the peripheral nervous system

abnormal oligodendrocyte morphology
- freeze-etching of optic nerves shows that the oligodendroglia plasma membrane is highly convoluted with numerous irregular invaginations and elevations

environmentally induced seizures
- -type mice
- when disturbed or handled mice exhibit convulsions characterized by body tension with head thrown back, fore limbs scrabbling and hind limbs stretched sideways for about 5 seconds sometimes followed by rigid extensor tetanus lasting 20 seconds unlike wild-type mice

tonic-clonic seizures
- generalized seizures without focal onset occur by 4 weeks of age

mortality/aging

premature death
- death usually occurs by 30 days commonly after a seizure
- mice die at around 28 days with some living as long as 40 days

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

Genotype: Plp1^jp/Y
B6CB-A/A Eda Plp1

behavior/neurological phenotype

abnormal startle reflex
- onset is developmentally delayed

decreased vocalization
- up to P8, mice exhibit less ultrasonic vocalizations compared with wild-type mice

hypoactivity
- by P12

vision/eye phenotype

delayed eyelid opening

growth/size/body region phenotype

decreased body weight

nervous system phenotype

abnormal astrocyte physiology
- cell cycle length of astrocytes is increased by 5 to 6 hours compared with wild-type cells

abnormal myelination
- microsomes prepared from brains of 18 day old homozygotes show a reduction in fatty acid chain elongation activity with arachidoyl CoA, behenoyl CoA, and palmitoyl CoA substrates

abnormal oligodendrocyte morphology
- as myelination advances oligodendrocytes become abnormal with lipid inclusions and multimembrane tubes unlike in wild-type mice

decreased oligodendrocyte number
- during the early period of myelination (1 to 6 days of age)

References

Additional References

Dautigny A; Mattei MG; Morello D; Alliel PM; Pham-Dinh D; Amar L; Arnaud D; Simon D; Mattei JF; Guenet JL; Avner P. 1986. The structural gene coding for myelin-associated proteolipid protein is mutated in jimpy mice. Nature 321(6073):867-9PubMed: 2425262 MGI: J:8332
Ferguson BM; Brockdorff N; Formstone E; Ngyuen T; Kronmiller JE; Zonana J. 1997. Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain. Hum Mol Genet 6(9):1589-94PubMed: 9285798 MGI: J:42614
Nave KA; Lai C; Bloom FE; Milner RJ. 1986. Jimpy mutant mouse: a 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing. Proc Natl Acad Sci U S A 83(23):9264-8PubMed: 3466187 MGI: J:8514
Srivastava AK; Pispa J; Hartung AJ; Du Y; Ezer S; Jenks T; Shimada T; Pekkanen M; Mikkola ML; Ko MS; Thesleff I; Kere J; Schlessinger D. 1997. The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proc Natl Acad Sci U S A 94(24):13069-74PubMed: 9371801 MGI: J:44605
Tvrdik P; Westerberg R; Silve S; Asadi A; Jakobsson A; Cannon B; Loison G; Jacobsson A. 2000. Role of a new mammalian gene family in the biosynthesis of very long chain fatty acids and sphingolipids. J Cell Biol 149(3):707-18PubMed: 10791983 MGI: J:61900

Additional - A^w-J related

Additional - Eda^Ta related

Additional - Plp1^jp related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Pyrosequencing:Plp1
- Separated PCR:A A A
- Separated PCR:A A A Alternate2
- Genotyping resources and troubleshooting
Breeding Considerations

Hemizygous Eda^Ta males can be identified by one day of age by the absence of post orbital bristle. They lack fur behind the ears and on the tail. Eda^Ta ?/+ + have stripes. Eda^Ta ?/Eda^Ta + and Eda^Ta ?/Y have no stripes, no hair behind the ears or on the tail, and often have a bent tail tip. ? Plp1^jp/Y can be identified by 10 days of age with severe tremor in rear legs and by 20-30 days of age they die. Eda^Ta and Plp1^jp are 15 cM apart on the X chromosome. Thus, the expected Mendelian ratios are as follows: 85% of Eda^Ta ?/+ + females prove to be Eda^Ta Plp1^jp/+ +; 15% of Eda^Ta ?/Eda^Ta ? or + ?/+ + females prove to carry Plp1^jp; 85% of Eda^Ta ?/Y males prove to carry Plp1^jp; 15% of +?/Y males prove to carry Plp1^jp.
- Additional Breeding and Husbandry Support
Mating System
- TJL Breeding Scheme: progeny test
- heterozygote x F1 TJL Breeding Summary: Ta ?/+ + female x B6CBACa-A^w-J F1 male. Females which yield Plp^jp/Y males become proven Ta Plp^jp/+ + breeders for colony maintenance
Appearance
- white-bellied agouti, tremors
  Related Genotype: A^w-J/A Plp1^jp/Y
  
  white-bellied agouti, unaffected
  Related Genotype: A^w-J/A +/Y or +/?
  
  agouti, tremors
  Related Genotype: A/A Plp1^jp/Y
  
  agouti, unaffected
  Related Genotype: A/A +/Y or +/?
Citation
When using the B6CBACa A^w-J/A-Plp1^jp Eda^Ta/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #000287 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 Eda<Ta>, Heterozygous or Wild-type for Plp1<jp>

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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General Terms and Conditions

Questions about Terms of Use

Licensing Information

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JAX® Mice, Products & Services Conditions of Use

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Genetic overview

Research Applications

Base Price

Important Note

Detailed Description

Development

Control Suggestions

Additional Information

Plp1jp

Allele Symbol: Plp1jp

Aw-J

Allele Symbol: Aw-J

EdaTa

Allele Symbol: EdaTa

Disease Terms

Research Areas By Phenotype

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

Genotype: EdaTa related

Genotype: Plp1jp related

Mammalian Phenotype Terms by Genotype

Genotype: Plp1jp/Plp1+B6CB-A/A Eda Plp1

nervous system phenotype

Genotype: Plp1jp/YNot Specified

behavior/neurological phenotype

nervous system phenotype

mortality/aging

Genotype: Plp1jp/YB6CB-A/A Eda Plp1

behavior/neurological phenotype

vision/eye phenotype

growth/size/body region phenotype

nervous system phenotype

References

Additional References

Additional - Aw-J related

Additional - EdaTa related

Additional - Plp1jp related

Genotyping Protocols

Breeding Considerations

Mating System

Appearance

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

Plp1^jp

Allele Symbol: Plp1^jp

A^w-J

Allele Symbol: A^w-J

Eda^Ta

Allele Symbol: Eda^Ta

Genotype: Eda^Ta related

Genotype: Plp1^jp related

Genotype: Plp1^jp/Plp1⁺
B6CB-A/A Eda Plp1

Genotype: Plp1^jp/Y
Not Specified

Genotype: Plp1^jp/Y
B6CB-A/A Eda Plp1

Additional - A^w-J related

Additional - Eda^Ta related

Additional - Plp1^jp related