Strain Name: |
B6CBACa Aw-J/A-Plp1jp EdaTa/J |
|---|---|
Stock Number: |
000287 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Former Name |
B6CBACa Aw-J/A-Plpjp EdaTa/J (Changed: 05-JAN-05
) |
|
B6CBACa-Aw-J/A-EdaTa Plpjp (Changed: 15-DEC-04
) | |
|
B6CBACa-Aw-J/A-Plpjp EdaTa (Changed: 15-DEC-04
) | |
| Genes & Alleles | Aw-J; Eda; EdaTa; Plp1; Plp1jp; a; |
Product Information
Strain Details
Type JAX® GEMM® Strain - Mutant Strain Additional information on JAX® GEMM® Strains. Mating System Other - see Strain Mating Scheme Text (Female x Male) TJL Breeding Scheme: progeny test; heterozygote x F1 TJL Breeding Summary: Ta ?/+ + female x B6CBACa-Aw-J F1 male. Females which yield Plpjp/Y males become proven Ta Plpjp/+ + breeders for colony maintenance. Species laboratory mouse Generation N59p Appearance
white-bellied agouti, tremors
Related Genotype: Aw-J/A Plp1jp/Y
white-bellied agouti, unaffected
Related Genotype: Aw-J/A +/Y or +/?
agouti, tremors
Related Genotype: A/A Plp1jp/Y
agouti, unaffected
Related Genotype: A/A +/Y or +/?Important Note
This strain is heterozygous for Plp1jp and EdaTa maintained on the same X chromosome.Strain Description
Hemizygous males carrying the X-linked jimpy spontaneous mutation (Plp1jp) 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. The stock is also carrying the X-linked tabby mutation (EdaTa).Strain Development
The tabby (EdaTa) and jimpy (Plp1jp) 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 EdaTa Plp1jp/+ + genotype crossed to a Ta/Y or +/Y male. In 1965 at approximately generation F6 a EdaTa Plp1jp/+ + female was outcrossed to a C57BL/6J-Aw-J male and pairs were mated. At F3 a EdaTa Plp1jp/+ + female was again crossed to a C57BL/6J-Aw-J male. The stock was then continually backcrossed into the C57BL/6J-Aw-J strain to N10. At N11 a cross of a EdaTa Plp1jp/+ + female was made to a CBA/Ca male and in the next generation a EdaTa Plp1jp/+ + 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 EdaTa Plp1jp-?/+ + females at N71 to B6CBACa-Aw-J/A F1 males.
Mammalian Phenotype Terms assigned by genotype |
Gene & Allele Details
| Allele Symbol | Aw-J | ||
|---|---|---|---|
| Allele Name | white bellied agouti Jackson | ||
| Common Name(s) | AWJ; | ||
| Strain of Origin | C57BL/6J | ||
| Gene Symbol and Name | a, nonagouti | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | AGSW; AGTI; AGTIL; ASP; As; MGC126092; MGC126093; SHEP9; agouti; agouti signal protein; agouti suppressor; | ||
| Allele Symbol | EdaTa | ||
| Allele Name | tabby | ||
| Common Name(s) | Ta; TaFa; Taf; | ||
| Strain of Origin | stock including A, C57BL, CBA, and RIII | ||
| Gene Symbol and Name | Eda, ectodysplasin-A | ||
| Chromosome | X | ||
| Gene Common Name(s) | ED1; ED1-A1; ED1-A2; EDA1; EDA2; Eda-A1; Eda-A2; HED; RGD1563178; Ta; XHED; XLHED; tabby; | ||
| 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 (Edaraddcr) and downless (Edardl) mice and with homozygous or heterozygous sleek (Dlslk) 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 EdaTa 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 EdaTa/+ females has been extensively studied because of its relevance to the X-inactivation theory of dosage compensation (J:5018, J:5238).EdaTa and the related mutations Edaraddcr and Edardl 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 EdaTa 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 EdaTa 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. [MGI Ref ID J:42614] [MGI Ref ID J:44605] | ||
| Allele Symbol | Plp1jp | ||
| Allele Name | jimpy | ||
| Common Name(s) | jp; | ||
| Strain of Origin | (KLM STOCK x XY STOCK)F1 | ||
| Gene Symbol and Name | Plp1, proteolipid protein (myelin) 1 | ||
| Chromosome | X | ||
| Gene Common Name(s) | DM20; MMPL; PLP; PLP/DM20; PMD; Plp; SPG2; jimpy; jp; msd; myelin synthesis deficiency; proteolipid protein (myelin); rsh; rump shaker; | ||
| General Note |
Plp1jp, jimpy, recessive. The original jimpy mutation arose spontaneously in an inbred line at the Institute of Animal Genetics in Edinburgh, and was shown to be sex-linked by expression in males only and by linkage with known sex-linked genes. Hemizygous males 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.Heterozygous (Plp1jp/+) females have normal lifespans and do not evince the tremor (J:288). They are reported to have a reduction in numbers of oligodendrocytes compared to wild-type females, as oligodendrocytes expressing the mutant allele fail to mature or to survive (J:18263), but myelin levels are not below normal (J:24977). Young heterozygous females show mosaic expression of Plp1jp in optic nerve myelination (J:6895). A fertile male chimera produced by combining a Plp1jp/Y anda +/- embryo, has sired Plp1jp/Plp1jp females, which were found to resemble Plp1jp/Y males.In jimpy males, the central nervous system is very deficient in myelin, but the peripheral nervous system is normally myelinated(J:12030, J:13141). Some poorly myelinated axons occur in the spinal cord and optic nerves, but the distribution is patchy and myelin usually does not extend more than one internodal length (J:5461). Oligodendroglia are reduced in number in the early period of myelination and, as myelination advances, they become abnormal, containing lipid inclusions and multimembranous tubes (J:5611). A large number of studies seeking to discover the basic defect causing the jimpy disease have found deficiencies in various myelin components including galactose cerebrosides, sulfatides, and myelin basic protein (J:12030, J:5352, J:7747). These deficiencies are probably all secondary effects, however. The jimpy mutation is a point mutation in the Plp1 gene (J:18263). Specifically, it is a single nucleotide substitution that deletes exon 5 and alters the open-reading frame (J:42979, J:42978). Plp1 mRNA is severely reduced in abundance (J:8082) and contains a 74-base deletion, probably due to a splicing defect (J:8514).Mutations in the human proteolipid protein gene cause dysmyelination in Pelizaeus-Merzbacher disease (OMIM 312080) and type 2 spastic paraplegia (OMIM 312920) (J:31051).The jimpy defect is expressed in cultured cerebellar tissue from newborn mice, very little myelin being formed by mutant cells in comparison to abundant myelin in control cultures (J:5115). Myelination is greatly improved in jimpy cultures by the addition of normal astroglial and oligodendroglial cells (J:7126). Immature cell death of oligodendrocytes is also characteristic of the jimpy mutant (J:18263). Jimpy oligodendrocyte loss can be partially restored by transplanting embryonic tissue into newborn wild-type brain (J:27477), and a combination of PLP and DM-20 cDNA transgenes increases myelination, though not to normal levels (J:19774). Presence of functional wild-type PLP due to transgenic insertion in jimpy animals does not prevent oligodendrocyte loss, possibly because it is Plp1jp type PLP which causes the cell death (J:25201). However, transgenic mice overexpressing DM-20 suffer CNS demyelination (J:24069), and an increased dose of proteolipid protein in transgenic mice causes a phenotype of hypomyelination, astrocytosis, seizures, and premature death (J:17373). Transgenic introduction of an antisense DNA into intron 3 of Plp1 in wild type mice results in a syndrome of reduced CNS axon conductance rates, impaired neuromotor coordination, and some behavioral deficits (J:21976).Plp1jp/Y male pups display a reduced rate of activity in several measures relative to +/Y littermates. Ultrasonic vocalizations were produced less frequently by the jimpy males (J:18363). Nevertheless, dams retrieved jimpy pups before wild type pups 80 to 100% of the time in a T-maze test (J:23638). Genbank ID for this mutation: M20752 | ||
| Molecular Note | Sequence analysis showed that this allele carries an A to G base change at the 3'splice acceptor site of intron 4. [MGI Ref ID J:20245] [MGI Ref ID J:42978] [MGI Ref ID J:42979] [MGI Ref ID J:8332] [MGI Ref ID J:8514] | ||
Control Information
| Allele | Control | |
|---|---|---|
| Plp1jp | Untyped from the colony | |
| Considerations for Choosing Controls | ||
Genotyping Protocols
Aw-J
Colony Maintenance
| Breeding & Husbandry | Hemizygous EdaTa 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. EdaTa ?/+ + have stripes. EdaTa ?/EdaTa + and EdaTa ?/Y have no stripes, no hair behind the ears or on the tail, and often have a bent tail tip. ? Plp1jp/Y can be identified by 10 days of age with severe tremor in rear legs and by 20-30 days of age they die. EdaTa and Plp1jp are 15 cM apart on the X chromosome. Thus, the expected Mendelian ratios are as follows: 85% of EdaTa ?/+ + females prove to be EdaTa Plp1jp/+ +; 15% of EdaTa ?/EdaTa ? or + ?/+ + females prove to carry Plp1jp; 85% of EdaTa ?/Y males prove to carry Plp1jp; 15% of +?/Y males prove to carry Plp1jp. |
|---|
Related Strains
Strains carrying Aw-J allele
View Strains carrying Aw-J (31 strains)
000314 B6CBACa Aw-J/A-EdaTa/J-XO 000569 C57BL/6J-Aw-J-EdaTa +/+ ArTfm/J 000583 STOCK T(X;16)16H +/+ EdaTa
002016 B6(Cg)-Aw-J EdaTa-6J Chr YB6-Sxr/EiJ 000552 B6-Aw-J-EdaTa-6J.Cg-Sxr 001730 B6-Aw-J-EdaTa-6J.Cg-Sxrb Hya-/J 000841 B6-Aw-J.CBy-EdaTa-By/J 001809 B6-Aw-J.Cg-EdaTa-6J +/+ ArTfm/J 001232 C3H/HeJ-EdaTa-5J/J 000338 C57BL/6J Aw-J-EdaTa-6J/J 003112 STOCK EdaTa-5J/J
005975 B6.Cg-Tg(Plp1-cre/ESR1)3.16Pop/J 003255 B6;129-Plp1tm1Kan/J
Additional Web Information
JAX® NOTES, January 1990, 440. Tabby Stocks Available from The Jackson Laboratory.
Research Applications
This mouse can be used to support research in many areas including:EdaTa related
Plp1jp relatedDermatology Research
Color and White Spotting Defects
Skin and Hair Texture Defects
Developmental Biology Research
Eye Defects
Mouse/Human Gene Homologs
hypohidrotic ectodermal dysplasia
Sensorineural Research
Eye Defects
Mouse/Human Gene Homologs
Pelizaeus-Merzbacher disease
Neurobiology Research
Myelination Defects
Tremor Defects
References
Additional ReferencesPrice and Supply Information
| Strain Name: | B6CBACa Aw-J/A-Plp1jp EdaTa/J |
| Stock Number: | 000287 |
Price Details
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Supply Details
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. |
| Licensing | See General Terms and Conditions below |
| Control Information | View Control Information in Strain Details. |
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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.Ordering and Purchasing Information
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