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Cln8
Gene Detail
Symbol

Name
ID
Cln8
ceroid-lipofuscinosis, neuronal 8
MGI:1349447
Feature Type
protein coding gene
Genetic Map
Chromosome 8
7.59 cM
Detailed Genetic Map ± 1 cM


Mapping data(7)
Sequence Map
Chr8:14881335-14901720 bp, + strand
From VEGA annotation of GRCm38

  20386 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10340  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: CLN8
Gene Tree: Cln8

Human
homologs
CLN8, ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 2055
neXtProt AC: NX_Q9UBY8

Human Synonyms: C8orf61, EPMR

Human Chr (Location): 8p23; chr8:1755778-1786570 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human CLN8

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(2) Spontaneous(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutants exhibit late-onset progressive motor neuron degeneration and retinal photoreceptor degeneration. Mutants accumulate proteolipid in neuronal cytoplasm, have hindlimb weakness and ataxia, and die at 9-14 months of age.
 
Human Diseases Modeled in Mice Using Cln8 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Cln8 interacts with 345 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (35 annotations)
Process adult locomotory behavior, adult walking behavior, ...
Component endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (82)    Tissues (60)    Images (21)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 60
Northern blot 10
RT-PCR 12
cDNA source data(19)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase cln8    NEW 
Molecular
reagents
All nucleic(22) cDNA(19) Primer pair(2) Other(1)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000032854 (Evidence)
Ensembl Gene Model ENSMUSG00000026317 (Evidence)
Entrez Gene 26889 (Evidence)
DFCI TC1572729, TC1661253
DoTS DT.101409039, DT.101312266
NIA Mouse Gene Index U042886
Consensus CDS Project CCDS40239.1
International Mouse Phenotyping Consortium Status Cln8
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000032854 VEGA Gene Model | MGI Sequence Detail 20386 C57BL/6J ±  kb
transcript OTTMUST00000081864 VEGA | MGI Sequence Detail 6857 Not Applicable 
polypeptide OTTMUSP00000043850 VEGA | MGI Sequence Detail 288 Not Applicable 

For the selected sequences
All sequences(63) RefSeq(6) UniProt(6)
Polymorphisms
SNPs within 2kb(153 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006634 TRAM/LAG1/CLN8 homology domain
Protein Ontology PR:000005594 protein CLN8
References
(Earliest) J:8492 Messer A, et al., Autosomal dominance in a late-onset motor neuron disease in the mouse. J Neurogenet. 1986 Nov;3(6):345-55
(Latest) J:202510 Palmer DN, et al., NCL disease mechanisms. Biochim Biophys Acta. 2013 Nov;1832(11):1882-93
All references(91)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-12334, MGI:97038

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
05/20/2015
MGI 5.22
The Jackson Laboratory