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Transgene Detail
Symbol: Tg(tetO-Chrnb2*V287L)H3Gica
Name: transgene insertion H3, Giorgio Casari
MGI ID: MGI:3843695
Synonyms: Chrnb2B287L transgene, Tg(TRE-Chrnb2V287L), Tg(TRE-Chrnb2V287L)H3
Transgene: Tg(tetO-Chrnb2*V287L)H3Gica  Location: unknown  Genetic Position: Chr1, Syntenic
Strain of Origin:  FVB
Transgene Type:    Transgenic (Inducible, Inserted expressed sequence)
Mutation:    Insertion
Tg(tetO-Chrnb2*V287L)H3Gica expresses 1 gene
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mouse cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal) in which the valine at amino acid position 287 has been replaced by leucine (V287L), replicating a pathogenic human mutation associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).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 H3 was estimated by quantitative Southern blot analysis to carry ~4 tandem copies of the transgene. (J:145855)
View phenotypes and curated references for all genotypes (concatenated display).
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Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
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 carries a single copy. (J:145855)
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:  2 reference(s)

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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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MGI 6.16
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