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Search results 201 to 300 out of 303 for Lgi1

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Type Details Score
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1757723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_12
Specimen Label: euxassay_008470_12
Detected: true
Specimen Num: 12
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•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1757723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_13
Specimen Label: euxassay_008470_13
Detected: true
Specimen Num: 13
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1757723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_14
Specimen Label: euxassay_008470_14
Detected: true
Specimen Num: 14
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1757723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_15
Specimen Label: euxassay_008470_15
Detected: true
Specimen Num: 15
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1757723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_16
Specimen Label: euxassay_008470_16
Detected: true
Specimen Num: 16
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_01
Specimen Label: euxassay_008470_01
Detected: true
Specimen Num: 1
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_02
Specimen Label: euxassay_008470_02
Detected: true
Specimen Num: 2
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•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_03
Specimen Label: euxassay_008470_03
Detected: true
Specimen Num: 3
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_04
Specimen Label: euxassay_008470_04
Detected: true
Specimen Num: 4
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_05
Specimen Label: euxassay_008470_05
Detected: true
Specimen Num: 5
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_06
Specimen Label: euxassay_008470_06
Detected: true
Specimen Num: 6
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_07
Specimen Label: euxassay_008470_07
Detected: true
Specimen Num: 7
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_08
Specimen Label: euxassay_008470_08
Detected: true
Specimen Num: 8
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_09
Specimen Label: euxassay_008470_09
Detected: true
Specimen Num: 9
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_10
Specimen Label: euxassay_008470_10
Detected: true
Specimen Num: 10
•
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•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_11
Specimen Label: euxassay_008470_11
Detected: true
Specimen Num: 11
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_12
Specimen Label: euxassay_008470_12
Detected: true
Specimen Num: 12
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_13
Specimen Label: euxassay_008470_13
Detected: true
Specimen Num: 13
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_14
Specimen Label: euxassay_008470_14
Detected: true
Specimen Num: 14
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_15
Specimen Label: euxassay_008470_15
Detected: true
Specimen Num: 15
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_16
Specimen Label: euxassay_008470_16
Detected: true
Specimen Num: 16
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_17
Specimen Label: euxassay_008470_17
Detected: true
Specimen Num: 17
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_18
Specimen Label: euxassay_008470_18
Detected: true
Specimen Num: 18
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_19
Specimen Label: euxassay_008470_19
Detected: true
Specimen Num: 19
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_20
Specimen Label: euxassay_008470_20
Detected: true
Specimen Num: 20
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_21
Specimen Label: euxassay_008470_21
Detected: true
Specimen Num: 21
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_22
Specimen Label: euxassay_008470_22
Detected: true
Specimen Num: 22
•
•
•
•
•
GXD Expression
GXD Expression
 
Probe: MGI:2377175
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1689423
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4825911
Age: embryonic day 14.5
Image: euxassay_008470_23
Specimen Label: euxassay_008470_23
Detected: true
Specimen Num: 23
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Publication
16341215 | J:105260
First Author: Bermingham JR Jr
Year: 2006
Journal: Nat Neurosci
Title: The claw paw mutation reveals a role for Lgi4 in peripheral nerve development.
Volume: 9
Issue: 1
Pages: 76-84
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Publication
26269648 | J:226018
First Author: Kole MJ
Year: 2015
Journal: J Neurosci
Title: Selective Loss of Presynaptic Potassium Channel Clusters at the Cerebellar Basket Cell Terminal Pinceau in Adam11 Mutants Reveals Their Role in Ephaptic Control of Purkinje Cell Firing.
Volume: 35
Issue: 32
Pages: 11433-44
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Publication
21966449 | J:177918
First Author: Quillé ML
Year: 2011
Journal: PLoS One
Title: High-throughput analysis of promoter occupancy reveals new targets for Arx, a gene mutated in mental retardation and interneuronopathies.
Volume: 6
Issue: 9
Pages: e25181
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Publication
18799476 | J:138839
First Author: Fulp CT
Year: 2008
Journal: Hum Mol Genet
Title: Identification of Arx transcriptional targets in the developing basal forebrain.
Volume: 17
Issue: 23
Pages: 3740-60
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Publication
24427155 | J:309721
 
First Author: Garaffo G
Year: 2013
Journal: Front Endocrinol (Lausanne)
Title: Profiling, Bioinformatic, and Functional Data on the Developing Olfactory/GnRH System Reveal Cellular and Molecular Pathways Essential for This Process and Potentially Relevant for the Kallmann Syndrome.
Volume: 4
Pages: 203
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Publication
22122031 | J:182275
First Author: Smith SE
Year: 2012
Journal: J Neurochem
Title: Mutant LGI1 inhibits seizure-induced trafficking of Kv4.2 potassium channels.
Volume: 120
Issue: 4
Pages: 611-21
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Publication
23375831 | J:237827
First Author: Gineste C
Year: 2013
Journal: Neuromuscul Disord
Title: In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype.
Volume: 23
Issue: 4
Pages: 357-69
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Publication
34321999 | J:313619
 
First Author: Bedogni F
Year: 2021
Journal: Front Mol Neurosci
Title: Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development.
Volume: 14
Pages: 686034
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Publication
- | J:136110
     
First Author: Velocigene
Year: 2008
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals)
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Publication
- | J:157065
     
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
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Publication
- | J:155856
       
First Author: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
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Publication
- | J:342604
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
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Publication
16602821 | J:162220
First Author: Magdaleno S
Year: 2006
Journal: PLoS Biol
Title: BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Volume: 4
Issue: 4
Pages: e86
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Publication
- | J:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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Publication
- | J:326541
       
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
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Publication
- | J:342587
       
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
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Publication
- | J:342605
       
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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Publication
- | J:68900
     
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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Publication
12466851 | J:80000
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
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Publication
- | J:164563
       
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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Publication
21267068 | J:153498
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:157972
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:144086
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
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Publication
- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:144087
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
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Publication
16990550 | J:112818
First Author: Fukata Y
Year: 2006
Journal: Science
Title: Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission.
Volume: 313
Issue: 5794
Pages: 1792-5
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Transgene
MGI:5306987 | Tg(Lgi1*)#Mpan
Type: transgene
Organism: mouse, laboratory
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Publication
17565425 | J:164051
First Author: Head K
Year: 2007
Journal: Mamm Genome
Title: Defining the expression pattern of the LGI1 gene in BAC transgenic mice.
Volume: 18
Issue: 5
Pages: 328-37
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Allele
Lgi1<tm2.1Jkc> | MGI:6275636
Name: leucine-rich repeat LGI family, member 1; targeted mutation 2.1, John K Cowell
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
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Publication
12023020 | J:77120
First Author: Gu W
Year: 2002
Journal: FEBS Lett
Title: The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins.
Volume: 519
Issue: 1-3
Pages: 71-6
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Publication
19778537 | J:163951
First Author: Cowell JK
Year: 2010
Journal: Exp Mol Pathol
Title: Inactivation of LGI1 expression accompanies early stage hyperplasia of prostate epithelium in the TRAMP murine model of prostate cancer.
Volume: 88
Issue: 1
Pages: 77-81
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Allele
Tg(Lgi1*)#Mpan | MGI:5307228
Name: transgene insertion, Matthew P Anderson
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
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Genotype
Genotype
Symbol: Tg(Lgi1*)#Mpan/?
Background: Not Specified
Zygosity: ot
Has Mutant Allele: true
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Allele
Tg(Thy1-Lgi1)#Mafu | MGI:7466703
Name: transgene insertion, Masaki Fukata
Allele Type: Transgenic
Attribute String: Epitope tag, Inserted expressed sequence
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Allele
Lgi1<tm1Mafu> | MGI:4437105
Name: leucine-rich repeat LGI family, member 1; targeted mutation 1, Masaki Fukata
Allele Type: Targeted
Attribute String: Null/knockout
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Allele
Lgi1<tm1.1Ics> | MGI:5317113
Name: leucine-rich repeat LGI family, member 1; targeted mutation 1.1, Mouse Clinical Institute
Allele Type: Targeted
Attribute String: Null/knockout
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Genotype
Genotype
Symbol: Lgi1/Lgi1
Background: involves: 129S6/SvEvTac * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Lgi1/Lgi1 Tyr/Tyr
Background: B6.Cg-Tyr Lgi1
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Lgi1/Lgi1
Background: involves: 129S2/SvPas * BALB/c * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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DO Term
DOID:0060748 | familial temporal lobe epilepsy 1
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Allele
Tg(Slc32a1-Lgi1)#Mafu | MGI:7466731
Name: transgene insertion, Masaki Fukata
Allele Type: Transgenic
Attribute String: Epitope tag, Inserted expressed sequence
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Allele
Tg(Grik4-Lgi1)#Mafu | MGI:7466732
Name: transgene insertion, Masaki Fukata
Allele Type: Transgenic
Attribute String: Epitope tag, Inserted expressed sequence
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Allele
Tg(Prox1-Lgi1)#Ran | MGI:7466678
Name: transgene insertion, Roger A Nicoll
Allele Type: Transgenic
Attribute String: Epitope tag, Inserted expressed sequence
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Genotype
Genotype
Symbol: Tg(Lgi1)#Mpan/?
Background: Not Specified
Zygosity: ot
Has Mutant Allele: true
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Publication
11545713 | J:71344
First Author: Skradski SL
Year: 2001
Journal: Neuron
Title: A novel gene causing a mendelian audiogenic mouse epilepsy.
Volume: 31
Issue: 4
Pages: 537-44
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Protein Domain
IPR009039 | EAR
Type: Repeat
Description: Most of the hereditary idiopathic epilepsies are due to mutation in ionchannels expressed in brain. Recently two non-ion channel genes LGI1 andVGLR1 have emerged as important causes of specific epilepsy syndromes. Theproduct of these two genes share a conserved repeated region of about 44 aminoacid residues, the EAR domain (for epilepsy-associated repeat) [].The predicted secondary structure (four β-strands) and the numbers ofrepeated copies (seven) suggest that the EAR domain belongs to theβ-propeller fold. A common functional feature found in all characteriseddomains of this class is a participation in protein-protein interactions.Since the EAR repeat is found in the ectodomain of VLGR1, it is most probablyinvolved in ligand recognition by the receptor [].Proteins known to contain EAR repeats are listed below:Mammalian LGI1 to LGI4. LGI1 is mutated in autosomal dominant partialepilepsy with auditory features (ADPEAF). The F348C missense mutation islocated in the third EAR repeat (7 copies).Mammalian thrombo-spondin N-terminal domain and EAR repeats containgprotein (TSPEAR) (7 copies).Mammalian very large G protein-coupled receptor 1 (VGLR1) or monogenicaudiogenic seizure-susceptible (MASS1) protein. In mouse, mutations inMASS1 gene are associated with generalized epilepsy and seizures inresponse to loud noises (7 copies) [].
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Publication
12095917 | -
First Author: Scheel H
Year: 2002
Journal: Hum Mol Genet
Title: A common protein interaction domain links two recently identified epilepsy genes.
Volume: 11
Issue: 15
Pages: 1757-62
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Protein
H6W0X1
Organism: Mus musculus/domesticus
Length: 205  
Fragment?: true
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Protein
Q8BYS1
Organism: Mus musculus/domesticus
Length: 295  
Fragment?: false
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Protein
Q4KMN2
Organism: Mus musculus/domesticus
Length: 316  
Fragment?: false
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Publication
29670100 | J:265744
First Author: Yamagata A
Year: 2018
Journal: Nat Commun
Title: Structural basis of epilepsy-related ligand-receptor complex LGI1-ADAM22.
Volume: 9
Issue: 1
Pages: 1546
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Protein
J3S6Y1
Organism: Mus musculus/domesticus
Length: 670  
Fragment?: false
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Protein
H6W0X2
Organism: Mus musculus/domesticus
Length: 1347  
Fragment?: true
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Publication
35948005 | J:327404
First Author: Marafi D
Year: 2022
Journal: Am J Hum Genet
Title: A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Volume: 109
Issue: 9
Pages: 1713-1723
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Protein
A0A0G2JGE8
Organism: Mus musculus/domesticus
Length: 509  
Fragment?: false
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Protein
Q8K4Z0
Organism: Mus musculus/domesticus
Length: 550  
Fragment?: false
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Protein
Q8K1S1
Organism: Mus musculus/domesticus
Length: 537  
Fragment?: false
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Protein
Q8K406
Organism: Mus musculus/domesticus
Length: 548  
Fragment?: false
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Protein
Q9JIA1
Organism: Mus musculus/domesticus
Length: 557  
Fragment?: false
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Protein
Q3UYI9
Organism: Mus musculus/domesticus
Length: 537  
Fragment?: false
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Protein
A0A0G2JFT0
Organism: Mus musculus/domesticus
Length: 291  
Fragment?: false
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Protein
A0A0G2JGB7
Organism: Mus musculus/domesticus
Length: 533  
Fragment?: false
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Protein
Q50DZ7
Organism: Mus musculus/domesticus
Length: 542  
Fragment?: false
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

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