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C57BL/6JCya-Lgi2em1flox/Cya
Common Name:
Lgi2-flox
Product ID:
S-CKO-08734
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Lgi2-flox
Strain ID
CKOCMP-246316-Lgi2-B6J-VA
Gene Name
Lgi2
Product ID
S-CKO-08734
Gene Alias
mKIAA1916
Background
C57BL/6JCya
NCBI ID
246316
Modification
Conditional knockout
Chromosome
5
Phenotype
MGI:2180196
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Lgi2em1flox/Cya mice (Catalog S-CKO-08734) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000039750
NCBI RefSeq
NM_144945
Target Region
Exon 5
Size of Effective Region
~0.7 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Lgi2, or leucine-rich, glioma inactivated 2, belongs to a family encoding secreted, beta-propeller domain proteins with EPTP/EAR epilepsy-associated repeats. It acts on metalloproteinase-lacking members of the ADAM family of neuronal receptors, functioning in synapse remodeling. LGI2, like LGI1, is neuronally secreted and ensures electrical stability during the early post-natal pruning period of the brain [1,3,4].

A protein-truncating mutation in the Lgi2 gene was identified in a large Lagotto romagnolo canine pedigree with a remitting focal epilepsy. The epilepsy in these dogs onsets at around seven weeks (equivalent to human two years) and remits by four months (human eight years). LGI2 is highly expressed in the immediate post-natal period until halfway through pruning, acting at least in part through the same ADAM receptors as LGI1 but earlier. This suggests LGI2 should be considered a candidate gene for common remitting childhood epilepsies, and the LGI2-to-LGI1 transition could be relevant for understanding childhood epilepsy remission mechanisms [1]. Also, LGI2 is a candidate gene for partial epilepsy with pericentral spikes (PEPS) based on protein sequence analysis and patient-specific chromosomal deletions [2].

In conclusion, Lgi2 plays a crucial role in synapse remodeling and ensuring electrical stability during early brain development. Studies on Lgi2 in canine models have revealed its potential significance in understanding and treating common remitting childhood epilepsies and related epilepsy phenotypes like PEPS.

References:
1. Seppälä, Eija H, Jokinen, Tarja S, Fukata, Masaki, Minassian, Berge A, Lohi, Hannes. 2011. LGI2 truncation causes a remitting focal epilepsy in dogs. In PLoS genetics, 7, e1002194. doi:10.1371/journal.pgen.1002194. https://pubmed.ncbi.nlm.nih.gov/21829378/
2. Limviphuvadh, Vachiranee, Chua, Ling Ling, Eisenhaber, Frank, Adhikari, Sharmila, Maurer-Stroh, Sebastian. . Is LGI2 the candidate gene for partial epilepsy with pericentral spikes? In Journal of bioinformatics and computational biology, 8, 117-27. doi:. https://pubmed.ncbi.nlm.nih.gov/20183877/
3. Limviphuvadh, Vachiranee, Chua, Ling Ling, Rahim, Rabi Atul Adawiyah Bte, Maurer-Stroh, Sebastian, Adhikari, Sharmila. 2010. Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2. In BMC biochemistry, 11, 39. doi:10.1186/1471-2091-11-39. https://pubmed.ncbi.nlm.nih.gov/20863412/
4. Kegel, Linde, Aunin, Eerik, Meijer, Dies, Bermingham, John R. 2013. LGI proteins in the nervous system. In ASN neuro, 5, 167-81. doi:10.1042/AN20120095. https://pubmed.ncbi.nlm.nih.gov/23713523/
Quality Control Standard
Sperm Test

Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.

Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.

Environmental Standards:SPF
Available Region:Global
Source:Cyagen
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