These BChE (butyrylcholinesterase) mutant mice are a model for human butyrylcholinesterase deficiency and may be useful for studying metabolic effects of organophosphorus toxicants or nerve agents, neurotransmitter function, and anti-Alzheimer's drug therapies.
Dr. Oksana Lockridge, Eppley Inst. (Univ of Nebraska Med Cntr)
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Bche | butyrylcholinesterase |
Mice homozygous for this BChE mutant allele are viable and fertile with no reported spontaneous abnormalities. All tissues and plasma from homozygous mice are devoid of BChE activity. As BChE (butyrylcholinesterase) is a bioscavenger molecule protecting acetylcholinesterase (AChE) activity against nerve agents and organophosphates, homozygous BChE-deficiency leads to impaired protection from toxic compounds. These BChE mutant mice are a model for human butyrylcholinesterase deficiency and may be useful for studying metabolic effects of organophosphorus toxicants or nerve agents, neurotransmitter function, and anti-Alzheimer's drug therapies.
Of note, the donating investigator has multiple strains available that may be useful for testing toxic compounds, including the AChE-deficient (Stock No. 005987), G117H BChE transgenic (Stock No. 007577), and BChE-deficient (see Stock No. 008077 and Stock No. 008087) mice.
The targeting vector was designed to replace the sequence containing the splice junction between intron 1 and exon 2 through the entire signal peptide (including the translation start site and the first 102 amino acids of the encoded BChE protein) with a neomycin cassette. The construct was electroporated into 129S1/Sv-derived CJ7 embryonic stem (ES) cells. Correctly targeted ES cells were injected into recipient blastocysts. The resulting chimeric animals were crossed to 129S1/SvImJ inbred mice. Mutant mice were backcrossed to 129S1/SvImJ for more than 10 generations prior to arrival at The Jackson Laboratory.
Allele Name | targeted mutation 1, Oksana Lockridge |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | BChE KO; BChE- |
Gene Symbol and Name | Bche, butyrylcholinesterase |
Gene Synonym(s) | |
Strain of Origin | 129S1/Sv-Oca2+ Tyr+ Kitl+ |
Chromosome | 3 |
Molecular Note | 891bp of the gene is replaced with a neomycin selection cassette, including 485bp from the 3' end of intron 1 and 406bp from the 5' end of exon 2. The region encoding the entire signal peptide, the translation start site, and the first 102 amino acids of the mature protein is deleted. |
Mutations Made By | Dr. Oksana Lockridge, Eppley Inst. (Univ of Nebraska Med Cntr) |
When maintaining a live colony, these mice may be bred as heterozygotes or homozygotes.
When using the 129S1/Sv-Bchetm1Loc/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #008077 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or Wild-type for Bche<tm1Loc> |
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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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