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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 zebrafish

Gene Tree: Cln8

Human
homologs
Human Homolog CLN8, ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
NCBI Gene ID 2055
neXtProt AC  NX_Q9UBY8
Human Synonyms  C8orf61, EPMR
Human Chr (Location)  8p23; chr8:1755778-1786570 (+)  GRCh38
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 Using Mouse Cln8 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Cln8 interacts with 346 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (36 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 (57)    Images (21)
Theiler Stages: 10, 18, 19, 21, 22, 23, 25, 28
Assay TypeResults
RNA in situ 60
Northern blot 10
RT-PCR 12
cDNA source data(19)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(22) cDNA(19) Primer pair(2) Other(1)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000032854 (Evidence)
Ensembl Gene ModelENSMUSG00000026317 (Evidence)
Entrez Gene26889 (Evidence)
DFCITC1572729, TC1661253
DoTSDT.101312266, DT.101409039
NIA Mouse Gene IndexU042886
Consensus CDS ProjectCCDS40239.1
International Mouse Knockout Project StatusCln8
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
07/23/2014
MGI 5.19
The Jackson Laboratory