These Pnpla6 knock-out mice exhibit an embryonic lethal phenotype, and neuropathy target esterase activity in brain tissue is reduced.
Carrolee Barlow, Brain Cells Inc
Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Targeted (Reporter, Null/Knockout) | Pnpla6 | patatin-like phospholipase domain containing 6 |
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.
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.
Expressed Gene | lacZ, beta-galactosidase, E. coli |
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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. |
Allele Name | targeted mutation 1, Carrolee Barlow |
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Allele Type | Targeted (Reporter, Null/Knockout) |
Allele Synonym(s) | Nte- |
Gene Symbol and Name | Pnpla6, patatin-like phospholipase domain containing 6 |
Gene Synonym(s) | |
Expressed Gene | lacZ, beta-galactosidase, E. coli |
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. |
Strain of Origin | 129S6/SvEvTac |
Chromosome | 8 |
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. |
Mutations Made By | Christopher Winrow, Salk Institute for Biological Studies |
This strain is maintained as a heterozygote due to homozygous embryonic lethality. Heterozygotes are more active than wildtype littermates.
When using the Nte- mouse strain in a publication, please cite the originating article(s) and include JAX stock #005091 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or Wild-type for Pnpla6<tm1Blw> |
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