Tg(tetO-Chrnb2*V287L)H5Gica
Transgene Detail
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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
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Alliance: |
Tg(tetO-Chrnb2*V287L)H5Gica page
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Transgene Type: |
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Transgenic (Inducible, Inserted expressed sequence) |
Inducer: |
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doxycycline/tetracycline |
Mutation: |
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Insertion
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Mutation details: This 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mouse cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal) in which the valine at amino acid position 287 has been replaced by leucine (V287L), replicating a pathogenic human mutation associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).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)
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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
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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)
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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) |
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