B6;129S2-Lgi1^tm1Ics/Orl

Status	Available to order
EMMA ID	EM:11039
International strain name	B6;129S2-Lgi1^tm1Ics/Orl
Alternative name	Lgi1-LoxP
Strain type	Targeted Mutant Strains : Conditional mutation
Allele/Transgene symbol	Lgi1^tm1Ics
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	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
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

MGI phenotypes (gene matching)

abnormal cerebellum external granule cell layer morphology / MGI
decreased body weight / MGI
decreased body size / MGI
aphagia / MGI
audiogenic seizures / MGI
postnatal growth retardation / MGI
seizures / MGI
premature death / MGI
gliosis / MGI
neurodegeneration / MGI
akinesia / MGI
abnormal hippocampal mossy fiber morphology / MGI
tonic seizures / MGI
abnormal glutamate-mediated receptor currents / MGI
increased susceptibility to pharmacologically induced seizures / MGI
nervous system phenotype / MGI
clonic seizures / MGI
tonic-clonic seizures / MGI
abnormal cerebellar granule cell morphology / MGI
abnormal miniature excitatory postsynaptic currents / MGI
abnormal brain wave pattern / MGI
abnormal spike wave discharge / MGI
environmentally induced seizures / MGI
decreased total body fat amount / MGI
postnatal lethality, complete penetrance / MGI

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

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

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Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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B6;129S2-Lgi1tm1Ics/Orl