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; chr8:1711870-1734736 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human CLN8

Alleles and phenotypes

All alleles(6) : Targeted(3) Gene trapped(2) Spontaneous(1)
 

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)   

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 (57)    Images (21)
Theiler Stages: 10, 18, 19, 21, 22, 23, 25, 28

Assay Type	Results
RNA in situ	60
Northern blot	10
RT-PCR	12

cDNA source data(19)
External Resources: Allen Institute   GEO   ArrayExpress

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.101312266, DT.101409039
NIA Mouse Gene Index	U042886
Consensus CDS Project	CCDS40239.1
International Mouse Knockout Project Status	Cln8

Sequences

Length	Strain/Species
genomic	OTTMUSG00000032854	VEGA Gene Model | MGI Sequence Detail	20386	C57BL/6J
transcript	OTTMUST00000081864	VEGA | MGI Sequence Detail	6857	Not Applicable
polypeptide	OTTMUSP00000043850	VEGA | MGI Sequence Detail	288	Not Applicable

All sequences(59) RefSeq(2) UniProt(6)

Polymorphisms

SNPs(107 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:168614 Galizzi G, et al., Different early ER-stress responses in the CLN8(mnd) mouse model of neuronal ceroid lipofuscinosis. Neurosci Lett. 2011 Jan 25;488(3):258-62
All references(89)

Other accession IDs

MGD-MRK-12334, MGI:97038