FVB-Tg(tetO-Chrnb2*V287L)H5Gica/Cnrm
| Status | Available to order |
| EMMA ID | EM:04322 |
| International strain name | FVB-Tg(tetO-Chrnb2*V287L)H5Gica/Cnrm |
| Alternative name | Tg(TRE-Chrnb2VL)/H5 |
| Strain type | Transgenic Strains |
| Allele/Transgene symbol | Tg(tetO-Chrnb2*V287L)H5Gica |
| Gene/Transgene symbol | Tg(tetO-Chrnb2*V287L)H5Gica |
Information from provider
| Provider | Giorgio Casari |
| Provider affiliation | San Raffaele University and San Raffaele Scientific Institute |
| Genetic information | The transgenic line expresses the autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) mutation V287L of the Chrnb2 gene (cholinergic receptor, nicotinic, beta polypeptide 2, neuronal) under the Tet-Off promoter, when crossed with tetracycline-controlled transactivator protein (tTA)-expressing strain. The H5 line carries the transgene in single copy. Transgenic mice are maintained by crossing with wild-type FVB/N inbred mice. Progeny inherits transgene with the expected Mendelian 0.5 ratio. Hemizygous transgenic mice are viable and fertile. |
| Phenotypic information | Mice expressing ADNFLE mutation display mild epileptic phenotype with interictal spikes associated to delayed desensitization of the nicotinic receptor. The H5 line carries the transgene in single copy, expressing beta2 mutant subunit in 0.5:1 ratio (mutant to endogenous protein). The epileptic phenotype is therefore milder, however in this line the proportion of mutant protein to the endogenous one is more similar to a physiological heterozygous state, making this line useful for studying effects of mutation in the physiology of native receptors (i.e. behavioural effects). |
| Breeding history | H5 strain is FVB inbred. A single copy of the transgene is inserted in a single locus. |
| References |
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| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
| Animals used for archiving | heterozygous FVB/N, wild-type FVB/N |
| Stage of embryos | 2-cell |
Literature references
- Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis.;Manfredi Irene, Zani Alessia D, Rampoldi Luca, Pegorini Simona, Bernascone Ilenia, Moretti Milena, Gotti Cecilia, Croci Laura, Consalez G Giacomo, Ferini-Strambi Luigi, Sala Mariaelvina, Pattini Linda, Casari Giorgio, ;2009;Human molecular genetics;18;1075-88; 19153075