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Former Names 129S-Ntetm1Blw/J (Changed: 19-JUL-06 ) Type Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Donating 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.
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| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
lacZ Expression Strains
View lacZ Expression Strains (176 strains)
Fluorescent Proteins/lacZ Systems
Genetic Quality Control Annual Report
View Mammalian Phenotype Terms
Mammalian Phenotype Terms
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
- behavior/neurological phenotype
- hyperactivity (MGI Ref ID J:82791)
Pnpla6tm1Blw/Pnpla6tm1Blw
involves: 129S6/SvEvTac * C57BL/6JView Research Applications
Research Applications
This mouse can be used to support research in many areas including:
Neurobiology Research
Behavioral and Learning Defects
Research Tools
lacZ Expression
Toxicology Research
| Allele Symbol | Pnpla6tm1Blw | ||
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| 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 | 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. | ||
| 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; neuropathy target esterase; sws; | ||
| 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] | ||
Genotyping Protocols
Pnpla6tm1Blw, STD PCR, vers. 1
Helpful Links
Optimizing PCR Protocols
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]
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]
Colony Maintenance
Breeding & Husbandry This strain is maintained as a heterozygote due to homozygous embryonic lethality. Heterozygotes are more active than wildtype littermates.
| Pricing for USA, Canada and Mexico shipping destinations |
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*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $1900.00
| Pricing for International shipping destinations |
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*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $2470.00
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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