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- Description
- Disease & phenotype
- Genes & alleles
- Genotyping
- Health & care
- References
- Pricing & purchasing
- Terms of use
Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Former Names 129S-Ntetm1Blw/J (Changed: 19-JUL-06 ) Type Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation ?+N1p (04-SEP-05)
Generation DefinitionsDonating Investigator Carrolee Barlow, Brain Cells Inc Description
Homozygous null mice have an embryonic lethal phenotype, failing to develop past embryonic day 8.5. Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and are more active than wildtype littermates. A reduced level of protein gene product is detected by immunoprecipitation and Western blot analysis of brain, testes and kidney, but protein levels are not reduced in liver. Beta galactosidase activity in heterozygotes aged embryonic day 13.5 is found in the developing lens and spinal cord. In adult heterozygotes, beta galactosidase activity is detected throughout the brain, especially in the cerebellar Purkinje cells and hippocampus. Beta galactosidase activity patterns mimic the endogenous gene expression pattern. NTE activity in brain tissue is reduced by 40%. Heterozygotes are more sensitive to organophosphate toxicity with increased motor activity and mortality. This mutant mouse strain may be useful in studies of neuropathological hyperactivity, Gulf War Syndrome, and organophosphate-induced sub-acute neurotoxicity.Development
A targeting vector containing lacZ, neomycin resistance and herpes simplex virus thymidine kinase genes was used to disrupt exons 4 to 10. The lacZ coding sequence was inserted into exon 4, and exons 5 to 10 were deleted. The construct was electroporated into 129S6/SvEvTac-derived TC1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts. The resulting chimeric animals from two independent ES cell clones were crossed. The offspring were mated to 129S1/SvImJ (STOCK#2448) mice.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
lacZ Expression Strains
View lacZ Expression Strains (255 strains)
Additional Web Information
Fluorescent Proteins/lacZ Systems
Phenotype
Phenotype Information
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Spastic Paraplegia 39, Autosomal Recessive; SPG39 (PNPLA6)
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Pnpla6tm1Blw/Pnpla6+
involves: 129S6/SvEvTac * C57BL/6J
- mortality/aging
- increased sensitivity to xenobiotic induced morbidity/mortality
- heterozygotes exhibit significantly higher mortality rates than wild-type mice after i.p. injection of ethyl octylphosphonofluoridate (EOPF), an organophosphate compound that causes delayed neurotoxicity, at both 6 mg and 10 mg EOPF per kg body weight (MGI Ref ID J:82791)
- however, no mortality or neuropathological effects are noted in either wild-type or heterozygous mutant mice with 1 mg EOPF per kg body weight (MGI Ref ID J:82791)
- homeostasis/metabolism phenotype
- increased sensitivity to xenobiotic induced morbidity/mortality
- heterozygotes exhibit significantly higher mortality rates than wild-type mice after i.p. injection of ethyl octylphosphonofluoridate (EOPF), an organophosphate compound that causes delayed neurotoxicity, at both 6 mg and 10 mg EOPF per kg body weight (MGI Ref ID J:82791)
- however, no mortality or neuropathological effects are noted in either wild-type or heterozygous mutant mice with 1 mg EOPF per kg body weight (MGI Ref ID J:82791)
- behavior/neurological phenotype
- *normal* behavior/neurological phenotype
- under baseline conditions, heterozygotes display no gross defects in learning and memory or anxiety relative to wild-type mice (MGI Ref ID J:82791)
- hyperactivity
- heterozygotes display higher baseline levels of motor activity than wild-type mice, as determined by total distance traveled and vertical rearing events in an open-field chamber over a 10-day test period (MGI Ref ID J:82791)
- after exposure to EOPF (1 mg per kg body weight), motor activity is significantly higher in wild-type mice than in heterozygous mutant mice, indicating that even a minor chemical reduction of enzyme activity can lead to hyperactivity (MGI Ref ID J:82791)
- increased vertical activity
- under baseline conditions, heterozygotes show a significantly higher number of vertical rearing events than wild-type mice over a 10-day test period in an open-field chamber (MGI Ref ID J:82791)
- after exposure to EOPF (1 mg per kg body weight), the number of vertical events is significantly higher in wild-type mice than in heterozygous mutant mice (MGI Ref ID J:82791)
Pnpla6tm1Blw/Pnpla6tm1Blw
involves: 129S6/SvEvTac * C57BL/6J
- mortality/aging
- complete embryonic lethality during organogenesis
- embryogenesis phenotype
- abnormal neural tube closure
- mutant embryos display abnormal closing of the neural tube (MGI Ref ID J:82791)
- decreased embryo size
- at E9, mutant embryos appear runted (MGI Ref ID J:82791)
- embryonic growth arrest
- mutant embryos are growth arrested at E10 and E11 (MGI Ref ID J:82791)
- embryonic growth retardation
- at E9, mutant embryos appear developmentally retarded relative to wild-type embryos (MGI Ref ID J:82791)
- growth/size phenotype
- decreased embryo size
- at E9, mutant embryos appear runted (MGI Ref ID J:82791)
- embryonic growth retardation
- at E9, mutant embryos appear developmentally retarded relative to wild-type embryos (MGI Ref ID J:82791)
- nervous system phenotype
- abnormal neural tube closure
- mutant embryos display abnormal closing of the neural tube (MGI Ref ID J:82791)
This mouse can be used to support research in many areas including:
Neurobiology Research
Behavioral and Learning Defects
Research Tools
lacZ Expression
Toxicology Research
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Pnpla6tm1Blw | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, Carrolee Barlow | ||
| Allele Type | Targeted (Reporter) | ||
| Common Name(s) | Nte-; | ||
| Mutation Made By | Christopher Winrow, Salk Institute for Biological Studies | ||
| Strain of Origin | 129S6/SvEvTac | ||
| ES Cell Line Name | TC1/TC-1 | ||
| ES Cell Line Strain | 129S6/SvEvTac | ||
| Site of Expression | lacZ expression in heterozygotes at embryonic day 13.5 is found in the developing lens and spinal chord. In adults, beta-galgalactosidase is detected throughout the brain, especially in the cerebellar Purkinje cells and the hippocampus. | ||
| Expressed Gene | lacZ, beta-galactosidase, E. coli | ||
| Molecular Note | The gene was disrupted by an in-frame fusion of lacZ to exon 4 and replacement of exons 5-10 with a neomycin resistance gene. [MGI Ref ID J:82791] | ||
| Gene Symbol and Name | Pnpla6, patatin-like phospholipase domain containing 6 | ||
| Chromosome | 8 | ||
| Gene Common Name(s) | AI661849; MSws; NTE; NTEMND; Nte; RGD1564611; SPG39; Swiss-cheese; expressed sequence AI661849; iPLA2delta; neuropathy target esterase; sws; | ||
Genotyping
Genotyping Information
Genotyping Protocols
Pnpla6tm1Blw, Standard PCR
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Selected Reference(s)
Winrow CJ; Hemming ML; Allen DM; Quistad GB; Casida JE; Barlow C. 2003. Loss of neuropathy target esterase in mice links organophosphate exposure to hyperactivity. Nat Genet 33(4):477-85. [PubMed: 12640454] [MGI Ref ID J:82791]
Additional References
Pnpla6tm1Blw relatedQuistad GB; Casida JE. 2004. Lysophospholipase inhibition by organophosphorus toxicants. Toxicol Appl Pharmacol 196(3):319-26. [PubMed: 15094302] [MGI Ref ID J:89357]
Health & husbandry
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Health & Colony Maintenance Information
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.Colony Maintenance
Breeding & Husbandry This strain is maintained as a heterozygote due to homozygous embryonic lethality. Heterozygotes are more active than wildtype littermates.
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2250.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryorecovery - Standard.
Progeny testing is not required.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
| Pricing for International shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2925.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryorecovery - Standard.
Progeny testing is not required.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
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Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
General Supply Notes
- Genomic DNA is available for this strain from the Mouse DNA Resource.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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.Ordering Information
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Contact information
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| phone: | 207-288-6470 |
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