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Cln3
Gene Detail
Symbol

Name
ID
Cln3
ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
MGI:107537
Synonyms
battenin
Feature Type
protein coding gene
Genetic Map
Chromosome 7
69.16 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr7:126571207-126585817 bp, - strand
From VEGA annotation of GRCm38

  14611 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37259  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: CLN3
Protein SuperFamily: CLN3 protein/Battenin (Batten disease protein)
Gene Tree: Cln3

Human
homologs
CLN3, ceroid-lipofuscinosis, neuronal 3
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 1201
neXtProt AC: NX_Q13286

Human Synonyms: BTS, JNCL

Human Chr (Location): 16p12.1; chr16:28466653-28492302 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human CLN3

Mutations,
alleles, and
phenotypes
All mutations/alleles(14) : Gene trapped(6) Targeted(8)
Incidental mutations (data from Mutagenetix , APF )
 
Nullizygous mutations can result in neuronal ceroid lipofuscinosis, degeneration of the retina, cerebral cortex and cerebellum, hypertrophy of hippocampal interneuron populations, gliosis, neurological deficits, and premature death. Homozygotes for a null allele show impaired water and K+ balance.
 
Human Diseases Modeled in Mice Using Cln3 (1)    Mutations Annotated to Human Diseases (4)   
Interactions
Cln3 interacts with 176 markers (Mir1b, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (75 annotations)
Process actin cytoskeleton organization, action potential, ...
Component autophagosome, caveola, ...
Function calcium-dependent protein binding, protein binding
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (43)    Tissues (29)    Images (15)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 43
cDNA source data(70)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase cln3 ; ZFIN cln3    NEW 
Molecular
reagents
All nucleic(70) cDNA(70)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000019900 (Evidence)
Ensembl Gene Model ENSMUSG00000030720 (Evidence)
Entrez Gene 12752 (Evidence)
UniGene 268930
DFCI TC1579133, TC1589833, TC1593673, TC1700151, TC1715542
DoTS DT.101736602, DT.483262, DT.91361298, DT.94218610, DT.97341975, DT.99849092
NIA Mouse Gene Index U029251
Consensus CDS Project CCDS21833.1
International Mouse Phenotyping Consortium Status Cln3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019900 VEGA Gene Model | MGI Sequence Detail 14611 C57BL/6J ±  kb
transcript OTTMUST00000047437 VEGA | MGI Sequence Detail 3203 Not Applicable 
polypeptide OTTMUSP00000021443 VEGA | MGI Sequence Detail 438 Not Applicable 

For the selected sequences
All sequences(113) RefSeq(17) UniProt(10)
Polymorphisms
RFLP(1) : SNPs within 2kb(116 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003492 Batten's disease protein Cln3
InterPro IPR018460 Batten's disease protein Cln3, subgroup
InterPro IPR020846 Major facilitator superfamily domain
Protein Ontology PR:000005591 battenin
References
(Earliest) J:34626 Lee RL, et al., Isolation and chromosomal mapping of a mouse homolog of the Batten disease gene CLN3. Genomics. 1996 Aug 1;35(3):617-9
(Latest) J:216094 Schultz ML, et al., CLN3 deficient cells display defects in the ARF1-Cdc42 pathway and actin-dependent events. PLoS One. 2014;9(5):e96647
All references(83)
Disease annotation references (7)
Other
accession IDs
MGD-MRK-36107, MGI:2141907

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory