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 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

Alleles and phenotypes

All 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)   

Gene Ontology (GO) classifications

All GO classifications: (68 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 Type	Results
RNA in situ	43

cDNA source data(70)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Cln3

Sequences

Length	Strain/Species
genomic	OTTMUSG00000019900	VEGA Gene Model | MGI Sequence Detail	14611	C57BL/6J
transcript	OTTMUST00000047437	VEGA | MGI Sequence Detail	3203	Not Applicable
polypeptide	OTTMUSP00000021443	VEGA | MGI Sequence Detail	438	Not Applicable

All sequences(116) RefSeq(21) UniProt(10)

Polymorphisms

RFLP(1) : SNPs within 2kb(116 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
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)

Other accession IDs

MGD-MRK-36107, MGI:2141907