Lgi1<sup>m1Kyo</sup> (leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo) - Rat Genome Database

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Gene: Lgi1m1Kyo (leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo) Rattus norvegicus
Analyze
Symbol: Lgi1m1Kyo
Name: leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo
RGD ID: 12792970
Description: A missense mutation (c.1154 T > G,L385R) was induced by N-ethyl-N-nitrosourea (ENU) in F344/NSlc.
ASSOCIATED WITH audiogenic seizures; increased susceptibility to induction of seizure by inducing agent; premature death; ASSOCIATED WITH epilepsy; epilepsy with generalized tonic-clonic seizures
Type: allele  of Lgi1  
Previously known as: Lgi1^[m1Kyo]; Lgi1m1Kyo
Is Marker For: Strains:   F344-Lgi1m1Kyo  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position: No map positions available.


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
References

References - curated
# Reference Title Reference Citation
1. A rat model for LGI1-related epilepsies. Baulac S, etal., Hum Mol Genet. 2012 Aug 15;21(16):3546-57. doi: 10.1093/hmg/dds184. Epub 2012 May 15.
2. Down-Regulation of Astrocytic Kir4.1 Channels during the Audiogenic Epileptogenesis in Leucine-Rich Glioma-Inactivated 1 (Lgi1) Mutant Rats. Kinboshi M, etal., Int J Mol Sci. 2019 Feb 26;20(5). pii: ijms20051013. doi: 10.3390/ijms20051013.

Genomics

Allelic Variants
Name Chromosome Start Pos End Pos Reference Nucleotide Variant Nucleotide Variant Type Assembly
Lgi1m1Kyo-var1 chr1 236083750 236083750 T G point_mutation mRatBN7.2
Lgi1m1Kyo-var1 chr1 256996315 256996315 T G point_mutation Rnor_6.0

Related Rat Strains
The following Strains have been annotated to Lgi1m1Kyo
F344-Lgi1m1Kyo    


Expression


Sequence

Nucleotide Sequences


Additional Information