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Search results 201 to 300 out of 364 for Cln3

0.029s
Type Details Score
GXD Expression  
Probe: MGI:4885141
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3274128
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:4945988
Age: postnatal day 42
Image: g02520 Adult
Specimen Label: g02520 Adult
Detected: true
Specimen Num: 4
GXD Expression  
Probe: MGI:6856748
Assay Type: Immunohistochemistry
Annotation Date: 2022-01-25
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:3277027
Pattern: Not Specified
Stage: TS27
Assay Id: MGI:6857768
Age: postnatal day 1
Note: Expression was in pyramidal cells.
Specimen Label: not shown
Detected: true
Specimen Num: 10
GXD Expression    
Probe: MGI:5881961
Assay Type: RNA in situ
Annotation Date: 2017-03-30
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1876824
Pattern: Not Specified
Stage: TS24
Assay Id: MGI:5881963
Age: embryonic day 16.0
Specimen Label: 1a E16
Detected: true
Specimen Num: 3
GXD Expression  
Probe: MGI:6856748
Assay Type: Immunohistochemistry
Annotation Date: 2022-01-25
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:3521626
Pattern: Regionally restricted
Stage: TS26
Assay Id: MGI:6857768
Age: embryonic day 18.5
Note: Strong expression was detected in the inner migratory zone of the external granule layer.
Specimen Label: 3A-5
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:6856748
Assay Type: Immunohistochemistry
Annotation Date: 2022-01-25
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:3521626
Pattern: Regionally restricted
Stage: TS26
Assay Id: MGI:6857768
Age: embryonic day 18.5
Note: Strong expression was detected in the inner migratory zone of the external granule layer.
Specimen Label: 3A-6
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:6856748
Assay Type: Immunohistochemistry
Annotation Date: 2022-01-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3521628
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6857768
Age: postnatal day 7
Specimen Label: 3A-7
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:6856745
Assay Type: RNA in situ
Annotation Date: 2022-01-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3521628
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6857716
Age: postnatal day 7
Specimen Label: not shown
Detected: true
Specimen Num: 9
GXD Expression  
Probe: MGI:4885141
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1609219
Pattern: Widespread
Stage: TS19
Assay Id: MGI:4945988
Age: embryonic day 11.5
Image: g02520 E11.5
Specimen Label: g02520 E11.5
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:4885141
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3266028
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:4945988
Age: postnatal day 7
Image: g02520 P7
Specimen Label: g02520 P7
Detected: true
Specimen Num: 3
GXD Expression  
Probe: MGI:4885141
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3266028
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:4945988
Age: postnatal day 42
Image: g02520 Adult
Specimen Label: g02520 Adult
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:5881961
Assay Type: RNA in situ
Annotation Date: 2017-03-30
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1646920
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:5881963
Age: embryonic day 12.0
Specimen Label: 1a E12
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:5881961
Assay Type: RNA in situ
Annotation Date: 2017-03-30
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1646922
Pattern: Not Specified
Stage: TS22
Assay Id: MGI:5881963
Age: embryonic day 14.0
Specimen Label: 1a E14
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:6856748
Assay Type: Immunohistochemistry
Annotation Date: 2022-01-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3566628
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6857768
Age: postnatal day 60
Specimen Label: not shown
Detected: true
Specimen Num: 11
GXD Expression  
Probe: MGI:4885141
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754028
Pattern: Widespread
Stage: TS28
Assay Id: MGI:4945988
Age: postnatal day 7
Image: g02520 P7
Specimen Label: g02520 P7
Detected: true
Specimen Num: 3
GXD Expression  
Probe: MGI:4885141
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754028
Pattern: Widespread
Stage: TS28
Assay Id: MGI:4945988
Age: postnatal day 42
Image: g02520 Adult
Specimen Label: g02520 Adult
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:5881961
Assay Type: RNA in situ
Annotation Date: 2017-03-30
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1754022
Pattern: Not Specified
Stage: TS22
Assay Id: MGI:5881963
Age: embryonic day 14.0
Specimen Label: 1a E14
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:5881961
Assay Type: RNA in situ
Annotation Date: 2017-03-30
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1754024
Pattern: Not Specified
Stage: TS24
Assay Id: MGI:5881963
Age: embryonic day 16.0
Specimen Label: 1a E16
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5881961
Assay Type: RNA in situ
Annotation Date: 2017-03-30
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:3599824
Pattern: Not Specified
Stage: TS24
Assay Id: MGI:5881963
Age: embryonic day 16.0
Specimen Label: 1a E16
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5881961
Assay Type: RNA in situ
Annotation Date: 2017-03-30
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1885224
Pattern: Not Specified
Stage: TS24
Assay Id: MGI:5881963
Age: embryonic day 16.0
Specimen Label: 1a E16
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5881961
Assay Type: RNA in situ
Annotation Date: 2017-03-30
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1885226
Pattern: Not Specified
Stage: TS26
Assay Id: MGI:5881963
Age: embryonic day 18.0
Specimen Label: 1a E18
Detected: true
Specimen Num: 4
GXD Expression  
Probe: MGI:4885141
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3280928
Pattern: Widespread
Stage: TS28
Assay Id: MGI:4945988
Age: postnatal day 7
Image: g02520 P7
Specimen Label: g02520 P7
Detected: true
Specimen Num: 3
GXD Expression  
Probe: MGI:4885141
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3280928
Pattern: Widespread
Stage: TS28
Assay Id: MGI:4945988
Age: postnatal day 42
Image: g02520 Adult
Specimen Label: g02520 Adult
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:5881961
Assay Type: RNA in situ
Annotation Date: 2017-03-30
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:3280926
Pattern: Not Specified
Stage: TS26
Assay Id: MGI:5881963
Age: embryonic day 18.0
Specimen Label: 1a E18
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:5881961
Assay Type: RNA in situ
Annotation Date: 2017-03-30
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1760424
Pattern: Not Specified
Stage: TS24
Assay Id: MGI:5881963
Age: embryonic day 16.0
Specimen Label: 1a E16
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5881961
Assay Type: RNA in situ
Annotation Date: 2017-03-30
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1760426
Pattern: Not Specified
Stage: TS26
Assay Id: MGI:5881963
Age: embryonic day 18.0
Specimen Label: 1a E18
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:6856748
Assay Type: Immunohistochemistry
Annotation Date: 2022-01-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3527628
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6857768
Age: postnatal day 14
Specimen Label: 4B2
Detected: true
Specimen Num: 7
GXD Expression  
Probe: MGI:4885141
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3266523
Pattern: Widespread
Stage: TS23
Assay Id: MGI:4945988
Age: embryonic day 15.5
Image: g02520 E15.5
Specimen Label: g02520 E15.5
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:6856745
Assay Type: RNA in situ
Annotation Date: 2022-01-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3267922
Pattern: Not Specified
Stage: TS22
Assay Id: MGI:6857716
Age: embryonic day 14.5
Specimen Label: 1 E14.5
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:6856745
Assay Type: RNA in situ
Annotation Date: 2022-01-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3267926
Pattern: Not Specified
Stage: TS26
Assay Id: MGI:6857716
Age: embryonic day 18.5
Specimen Label: 1 E18.5
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:6856745
Assay Type: RNA in situ
Annotation Date: 2022-01-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3267927
Pattern: Not Specified
Stage: TS27
Assay Id: MGI:6857716
Age: postnatal day 1
Specimen Label: 1 P1
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:6856745
Assay Type: RNA in situ
Annotation Date: 2022-01-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3267928
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6857716
Age: postnatal day 7
Specimen Label: 1 P7
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:6856745
Assay Type: RNA in situ
Annotation Date: 2022-01-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3267928
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6857716
Age: postnatal day 14
Specimen Label: 1 P14
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:6856745
Assay Type: RNA in situ
Annotation Date: 2022-01-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3267928
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6857716
Age: postnatal day 24
Specimen Label: 1 P24
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:6856745
Assay Type: RNA in situ
Annotation Date: 2022-01-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3267928
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6857716
Age: postnatal day 60
Specimen Label: 1 P60
Detected: true
Specimen Num: 7
GXD Expression  
Probe: MGI:6856748
Assay Type: Immunohistochemistry
Annotation Date: 2022-01-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1756326
Pattern: Not Specified
Stage: TS26
Assay Id: MGI:6857768
Age: embryonic day 18.5
Note: Expression was detected in large neurons localized in the pons region.
Specimen Label: 3B
Detected: true
Specimen Num: 5
GXD Expression
Probe: MGI:4885141
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1757723
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4945988
Age: embryonic day 15.5
Image: g02520 E15.5
Note: Expression was region specific and scattered.
Specimen Label: g02520 E15.5
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:4885141
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1757728
Pattern: Widespread
Stage: TS28
Assay Id: MGI:4945988
Age: postnatal day 7
Image: g02520 P7
Specimen Label: g02520 P7
Detected: true
Specimen Num: 3
GXD Expression
Probe: MGI:4885141
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1757728
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:4945988
Age: postnatal day 42
Image: g02520 Adult
Note: Expression was region specific and scattered.
Specimen Label: g02520 Adult
Detected: true
Specimen Num: 4
GXD Expression  
Probe: MGI:5881961
Assay Type: RNA in situ
Annotation Date: 2017-03-30
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1689426
Pattern: Not Specified
Stage: TS26
Assay Id: MGI:5881963
Age: embryonic day 18.0
Note: Decreased expression levels in the brain.
Specimen Label: 1a E18
Detected: true
Specimen Num: 4
GXD Expression  
Probe: MGI:5881961
Assay Type: RNA in situ
Annotation Date: 2017-03-30
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1689427
Pattern: Regionally restricted
Stage: TS27
Assay Id: MGI:5881963
Age: postnatal day 3
Note: Decreased expression levels in the brain.
Specimen Label: 1b P3 (top)
Detected: true
Specimen Num: 5
GXD Expression  
Probe: MGI:5881961
Assay Type: RNA in situ
Annotation Date: 2017-03-30
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1689428
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:5881963
Age: postnatal day 7
Note: Decreased expression levels in the brain.
Specimen Label: 1b P7 (bottom)
Detected: true
Specimen Num: 8
GXD Expression  
Probe: MGI:5881961
Assay Type: RNA in situ
Annotation Date: 2017-03-30
Strength: Trace
Sex: Not Specified
Emaps: EMAPS:1689428
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:5881963
Age: postnatal adult
Note: Authors report strongly reduced expression; expression was hardly detectable.
Specimen Label: 1b adult (middle right)
Detected: true
Specimen Num: 13
GXD Expression    
Probe: MGI:5881961
Assay Type: RNA in situ
Annotation Date: 2017-03-30
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1881224
Pattern: Not Specified
Stage: TS24
Assay Id: MGI:5881963
Age: embryonic day 16.0
Specimen Label: 1a E16
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5881961
Assay Type: RNA in situ
Annotation Date: 2017-03-30
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1881226
Pattern: Not Specified
Stage: TS26
Assay Id: MGI:5881963
Age: embryonic day 18.0
Specimen Label: 1a E18
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:6856748
Assay Type: Immunohistochemistry
Annotation Date: 2022-01-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3794728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6857768
Age: postnatal day 60
Specimen Label: not shown
Detected: true
Specimen Num: 11
Publication
First Author: Sealock R
Year: 2014
Journal: Circ Res
Title: Congenic fine-mapping identifies a major causal locus for variation in the native collateral circulation and ischemic injury in brain and lower extremity.
Volume: 114
Issue: 4
Pages: 660-71
Publication
First Author: Palmer DN
Year: 2013
Journal: Biochim Biophys Acta
Title: NCL disease mechanisms.
Volume: 1832
Issue: 11
Pages: 1882-93
Protein
Organism: Mus musculus/domesticus
Length: 438  
Fragment?: false
Publication  
First Author: Minye HM
Year: 2016
Journal: Data Brief
Title: Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin.
Volume: 8
Pages: 741-9
Publication
First Author: Cho SK
Year: 2005
Journal: Glycobiology
Title: Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease.
Volume: 15
Issue: 6
Pages: 637-48
Publication
First Author: Järvelä I
Year: 1998
Journal: Hum Mol Genet
Title: Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease.
Volume: 7
Issue: 1
Pages: 85-90
Publication    
First Author: Burns JC
Year: 2020
Journal: Elife
Title: Differential accumulation of storage bodies with aging defines discrete subsets of microglia in the healthy brain.
Volume: 9
Publication  
First Author: Lyly A
Year: 2009
Journal: BMC Cell Biol
Title: Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.
Volume: 10
Pages: 83
Publication
First Author: Kaczmarski W
Year: 1999
Journal: Mol Genet Metab
Title: Studies of membrane association of CLN3 protein.
Volume: 66
Issue: 4
Pages: 261-4
Publication
First Author: Michalewski MP
Year: 1999
Journal: Mol Genet Metab
Title: Posttranslational modification of CLN3 protein and its possible functional implication.
Volume: 66
Issue: 4
Pages: 272-6
Publication      
First Author: International Knockout Mouse Consortium
Year: 2014
Journal: Database Download
Title: MGI download of modified allele data from IKMC and creation of new knockout alleles
Publication      
First Author: Velocigene
Year: 2008
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals)
Publication      
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
Publication      
First Author: Wellcome Trust Sanger Institute
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute
Publication      
First Author: International Mouse Strain Resource
Year: 2014
Journal: Database Download
Title: MGI download of germline transmission data for alleles from IMSR strain data
Publication        
First Author: The Gene Ontology Consortium
Year: 2016
Title: Automatic assignment of GO terms using logical inference, based on on inter-ontology links
Publication      
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
Publication      
First Author: GUDMAP Consortium
Year: 2004
Journal: www.gudmap.org
Title: GUDMAP: the GenitoUrinary Development Molecular Anatomy Project
Publication
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
Publication
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
Publication        
First Author: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
Publication
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
Publication
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
Publication        
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
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
Publication        
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
Publication      
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication      
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
Publication
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
Publication      
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).
Publication        
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication        
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication      
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
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
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
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication
First Author: Golabek AA
Year: 1999
Journal: Mol Genet Metab
Title: Expression studies of CLN3 protein (battenin) in fusion with the green fluorescent protein in mammalian cells in vitro.
Volume: 66
Issue: 4
Pages: 277-82
Protein
Organism: Mus musculus/domesticus
Length: 70  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 69  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 77  
Fragment?: false
Protein Domain
Type: Family
Description: Batten's disease, the juvenile variant of neuronal ceroid lipofuscionosis(NCL), is a recessively inherited disorder affecting children of 5-10years of age. The disease is characterised by progressive loss of vision,seizures and psychomotor disturbances. Biochemically, the disease ischaracterised by lysosomal accumulation of hydrophobic material, mainly ATPsynthase subunit C, largely in the brain but also in other tissues. The disease is fatal within a decade [].Mutations in the CLN3 gene are believed to cause Batten's disease []. TheCLN3 gene, with a predicted 438-residue product, maps to chromosome p16p12.1. The gene contains at least 15 exons spanning 15kb and is highly conserved in mammals []. A 1.02kb deletion in the CLN3 gene, occurring in either one or both alleles, is found in 85% of Batten disease chromosomes causing a frameshift generating a predicted translated product of 181 amino acid residues [, ]. 22 other mutations, including deletions, insertions and point mutations, have beenreported. It has been suggested that such mutations result in severelytruncated CLN3 proteins, or affect its structure/conformation [, ].CLN3 proteins, which are believed to associate in complexes, are heavilyglycosylated lysosomal membrane proteins [], containing complex Asn-linkedoligosaccharides []. Extensive glycosylation is important for the stabilityof these lysosomal proteins in the highly hydrolytic lysosomal lumen. Lysosomalsequestration of active lysosomal enzymes, transport of degraded moleculesfrom the lysosomes, and fusion and fission between lysosomes and otherorganelles. The CLN3 protein is a 43kDa, highly hydrophobic, multi-transmembrane (TM),phosphorylated protein []. Hydrophobicity analysis predicts 6-9 TMsegments, suggesting that CLN3 is a TM protein that may function as achaperone or signal transducer. The majority of putative phosphorylationsites are found in the N-terminal domain, encompassing 150 residues [].Phosphorylation is believed to be important for membrane compartment interaction, in the formation of functional complexes, and in regulation and interactions with other proteins [].CLN3 contains several motifs that may undergo lipid post-translationalmodifications (PTMs). PTMs contribute to targeting and anchoring of modifiedproteins to distinct biological membranes []. There are three general classes of lipid modification: N-terminal myristoylation, C-terminal prenylation, and palmitoylation of cysteine residues. Such modifications are believed to be a common form of PTM occurring in 0.5% of all cellularproteins, including brain tissue []. The C terminus of the CLN3 containsvarious lipid modification sites: C435, target for prenylation; G419, target for myristoylation; and C414, target for palmitoylation [].Prenylation results in protein hydrophobicity, influences interaction withupstream regulatory proteins and downstream effectors, facilitates protein-protein interaction (multisubunit assembly) and promotes anchoring tomembrane lipids. The prenylation motif, Cys-A-A-X, is highly conservedwithin CLN3 protein sequences of different species [].Species with known CLN3 protein homologues include: Homo sapiens, Canis familiaris, Mus musculus, Saccharomyces cerevisiae and Drosophila melanogaster.
Allele
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; targeted mutation 1, Robert L Nussbaum
Allele Type: Targeted
Attribute String: Null/knockout
Publication
First Author: Soldati C
Year: 2021
Journal: EMBO Mol Med
Title: Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype.
Volume: 13
Issue: 10
Pages: e13742
Protein
Organism: Mus musculus/domesticus
Length: 151  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 226  
Fragment?: false