FVB-Tg(tetO-Chrnb2*V287L)H3Gica/Cnrm
| Status | Available to order |
| EMMA ID | EM:04321 |
| International strain name | FVB-Tg(tetO-Chrnb2*V287L)H3Gica/Cnrm |
| Alternative name | Tg(TRE-Chrnb2VL)/H3 |
| Strain type | Transgenic Strains |
| Allele/Transgene symbol | Tg(tetO-Chrnb2*V287L)H3Gica |
| Gene/Transgene symbol | Tg(tetO-Chrnb2*V287L)H3Gica |
Information from provider
| Provider | Giorgio Casari |
| Provider affiliation | San Raffaele University and San Raffaele Scientific Institute |
| Genetic information | The transgenic line expresses the 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 H3 lines carries 4 copies of the transgene. |
| Phenotypic information | Mice expressing ADNFLE mutation display epileptic phenotype with interictal spikes and spontaneous seizure associated to delayed desensitization of the nicotinic receptor. H3 line carries 4 copies of the transgene and expresses mutant beta2 protein at high levels. This overexpression does not influence the total number of beta2 containing receptors, but determines a more severe epileptic phenotype, with frequent spontaneous seizures, probably due to the higher probability of incorporation of mutant subunits into functional receptors, which are pentamers of alpha and beta subunits. |
| Breeding history | H3 strain is FVB inbred. Four copies of the transgene are tandemly inserted in a single locus. 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. |
| 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