129S1/Sv-Bche^tm1Loc/J

Stock number: 008077
Strain synonyms: 129S1-BChE
Research areas: Cancer Research, Metabolism Research, Neurobiology Research, Research Tools

Description

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.

Detailed description

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.

Development

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

Symbol: Bche^tm1Loc
Name: targeted mutation 1, Oksana Lockridge
MGI accession ID: MGI:3723049
Generation method: Targeted
Attributes: Null/Knockout
Synonyms: BChE KO; BChE^-
Marker symbol: Bche
Marker name: butyrylcholinesterase
Marker synonyms: BCHED; C730038G20Rik; CHE1; CHE2; E1
Chromosome: 3
Strain of origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺
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.