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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

Protein SuperFamily: CLN3 protein/Battenin (Batten disease protein)
Gene Tree: Cln3

Human
homologs
Human Homolog CLN3, ceroid-lipofuscinosis, neuronal 3
NCBI Gene ID 1201
neXtProt AC  NX_Q13286
Human Synonyms  BTS, JNCL
Human Chr (Location)  16p12.1; chr16:28466653-28492302 (-)  GRCh38
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 Using Mouse Cln3 (1)    Alleles Annotated to Human Diseases(4)   
Interactions
Cln3 interacts with 176 markers (Mir1b, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (69 annotations)
Process action potential, amino acid transport, ...
Component autophagic vacuole, 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)
Theiler Stages: 19, 22, 23, 24, 28
Assay TypeResults
RNA in situ 43
cDNA source data(70)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(70) cDNA(70)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000019900 (Evidence)
Ensembl Gene ModelENSMUSG00000030720 (Evidence)
Entrez Gene12752 (Evidence)
UniGene268930
DFCITC1579133, TC1589833, TC1593673, TC1700151, TC1715542
DoTSDT.101736602, DT.483262, DT.91361298, DT.94218610, DT.97341975, DT.99849092
NIA Mouse Gene IndexU029251
Consensus CDS ProjectCCDS21833.1
International Mouse Knockout Project StatusCln3
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(116) RefSeq(21) 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 IPR016196 Major facilitator superfamily domain, general substrate transporter
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:209048 Koike M, et al., Differences in expression patterns of cathepsin C/dipeptidyl peptidase I in normal, pathological and aged mouse central nervous system. Eur J Neurosci. 2013 Mar;37(5):816-30
All references(82)
Disease annotation references (6)
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
08/19/2014
MGI 5.19
The Jackson Laboratory