B6;129S2-Lgi1tm1Ics/Orl
| Status | Available to order |
| EMMA ID | EM:11039 |
| International strain name | B6;129S2-Lgi1tm1Ics/Orl |
| Alternative name | Lgi1-LoxP |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Lgi1tm1Ics, |
| Gene/Transgene symbol | Lgi1 |
Information from provider
| Provider | Stephanie Baulac |
| Provider affiliation | Hopital PItié-Salpetriere, Institut du Cerveau et de la Moelle-ICM |
| Genetic information | Lgi1 loxP/loxP floxed mice possess loxP sites flanking exons 6-7 of the leucine-rich repeat LGI family, member 1 (Lgi1) gene. LGI1 is a secreted protein linked to human seizures of both genetic and autoimmune aetiology. Mutations in LGI1 are associated with autosomal dominant epilepsy with auditory features (ADEAF) characterized by adolescence/early adulthood-onset lateral temporal seizures. In models of autoimmune encephalitis, patients develop antibodies against LGI1, which are involved in limbic encephalitis, an acquired epileptic disorder associated with cognitive impairment. Patients with autoantibodies directed against LGI1 protein suffer from psychiatric symptoms, including memory loss and confusion, and from epilepsy. Mice that are homozygous for this allele are viable and fertile (PMID: 20659958). When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exons 6-7 deleted in cre-expressing tissues, resulting in a premature stop codon. When bred to mice expressing Cre recombinase under the control of the phosphoglycerate kinase 1 (Pgk1) promoter (similar to B6.C-Tg(Pgk1-cre)1Lni/CrsJ), resulting Lgi1-deficient mice display early-onset (P10) spontaneous epileptic seizures (PMID: 20659958), and die between 2 and weeks of age. |
| Phenotypic information | Homozygous:Mice that are homozygous for this allele are viable and fertile (PMID: 20659958).Heterozygous:Mice that are heterozygous for this allele are viable and fertile (PMID: 20659958). |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
| Animals used for archiving | heterozygous C57BL/6J |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Autosomal dominant epilepsy with auditory features / Orphanet_101046
Literature references
- Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice.;Chabrol Elodie, Navarro Vincent, Provenzano Giovanni, Cohen Ivan, Dinocourt Céline, Rivaud-Péchoux Sophie, Fricker Desdemona, Baulac Michel, Miles Richard, Leguern Eric, Baulac Stéphanie, ;2010;Brain : a journal of neurology;133;2749-62; 20659958
- Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures.;Boillot Morgane, Huneau Clément, Marsan Elise, Lehongre Katia, Navarro Vincent, Ishida Saeko, Dufresnois Béatrice, Ozkaynak Ekim, Garrigue Jérôme, Miles Richard, Martin Benoit, Leguern Eric, Anderson Matthew P, Baulac Stéphanie, ;2014;Brain : a journal of neurology;137;2984-96; 25234641
- LGI1 acts presynaptically to regulate excitatory synaptic transmission during early postnatal development.;Boillot Morgane, Lee Chun-Yao, Allene Camille, Leguern Eric, Baulac Stéphanie, Rouach Nathalie, ;2016;Scientific reports;6;21769; 26878798
- Epilepsy gene LGI1 regulates postnatal developmental remodeling of retinogeniculate synapses.;Zhou Yu-Dong, Zhang Dawei, Ozkaynak Ekim, Wang Xuan, Kasper Ekkehard M, Leguern Eric, Baulac Stéphanie, Anderson Matthew P, ;2012;The Journal of neuroscience : the official journal of the Society for Neuroscience;32;903-10; 22262888