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Tg(tetO-Chrnb2*V287L)H5Gica
Transgene Detail
Summary
Symbol: Tg(tetO-Chrnb2*V287L)H5Gica
Name: transgene insertion H5, Giorgio Casari
MGI ID: MGI:5014761
Synonyms: Chrnb2B287L transgene, Tg(TRE-Chrnb2B287L), Tg(TRE-Chrnb2V287L)H5
Transgene: Tg(tetO-Chrnb2*V287L)H5Gica  Location: unknown  
Alliance: Tg(tetO-Chrnb2*V287L)H5Gica page
Transgene
origin
Strain of Origin:  FVB
Transgene
description
Transgene Type:    Transgenic (Inducible, Inserted expressed sequence)
Inducer:    doxycycline/tetracycline
Mutation:    Insertion
 
Mutation detailsThis transgene contains the coding sequence, with the intact first intron, of mouse cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal) in which the valine at amino acid position 287 has been replaced by leucine (V287L), replicating a pathogenic human mutation associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). It is expressed under transcriptional control of the tetracycline transactivator (tTA)( also called the tetracycline response element, TRE), which consists of seven repeats of the tetO operator fused to a minimal cytomegalovirus (CMV) promoter. The mutant acetylcholine receptor subunit is produced only in the presence of the tetracycline transactivator (tTA), expressed from a second transgene; administration of doxycycline inhibits tTA binding to tetO, repressing transcription from the latter. Line H5 was estimated by quantitative Southern blot analysis to carry a single copy of the transgene. (J:145855)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Notes
Transgenic mouse lines were derived from three founder animals and designated H1, H3 and H5. Quantitative Southern blot analysis suggests that line H3 carries ~4 tandem copies of the transgene, while lines H1 and H3 each carry a single copy. (J:145855)
References
Original:  J:145855 Manfredi I, et al., Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis. Hum Mol Genet. 2009 Mar 15;18(6):1075-88
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory