Cln6
Gene Detail

Symbol Name ID

Cln6 ceroid-lipofuscinosis, neuronal 6 MGI:2159324

Synonyms

1810065L06Rik, D9Bwg1455e

Feature Type

protein coding gene

Genetic Map

Chromosome 9

33.89 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)

Sequence Map

Chr9:62838785-62852006 bp, + strand From VEGA annotation of GRCm38   13222 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:9898  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Cln6

Human homologs

Human Homolog		CLN6, ceroid-lipofuscinosis, neuronal 6, late infantile, variant
NCBI Gene ID		54982
neXtProt AC		NX_Q9NWW5
Human Synonyms		CLN4A, HsT18960, nclf
Human Chr (Location)		15q23; chr15:68499330-68522080 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human CLN6

Alleles and phenotypes

All alleles(11) : Targeted(4) Gene trapped(6) Spontaneous(1)
 

Homozygous mutants have progressive retinal atrophy, limb paralysis, and seizures that lead to early death.

 
Human Diseases Modeled Using Mouse Cln6 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (20 annotations)

Process	cellular macromolecule catabolic process, cholesterol metabolic process, ...
Component	endoplasmic reticulum, endoplasmic reticulum lumen
Function	protein homodimerization activity

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (55)    Tissues (36)    Images (20)
Theiler Stages: 19, 20, 22, 23, 24, 26, 28

Assay Type	Results
RNA in situ	55

cDNA source data(54)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(58) cDNA(55) Primer pair(1) Other(2)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000033326 (Evidence)
Ensembl Gene Model	ENSMUSG00000032245 (Evidence)
Entrez Gene	76524 (Evidence)
UniGene	283636
DFCI	TC1577242
DoTS	DT.110644527, DT.531732, DT.94375608
NIA Mouse Gene Index	U010600
Consensus CDS Project	CCDS23267.1
International Mouse Knockout Project Status	Cln6

Sequences

Length	Strain/Species
genomic	OTTMUSG00000033326	VEGA Gene Model | MGI Sequence Detail	13222	C57BL/6J
transcript	OTTMUST00000083630	VEGA | MGI Sequence Detail	2142	Not Applicable
polypeptide	OTTMUSP00000044963	VEGA | MGI Sequence Detail	308	Not Applicable

All sequences(55) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(13 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
Protein Ontology	PR:000005593	ceroid-lipofuscinosis neuronal protein 6

References

(Earliest) J:44483 Brady KP, et al., Genetic mapping of 262 loci derived from expressed sequences in a murine interspecific cross using single-strand conformational polymorphism analysis. Genome Res. 1997 Nov;7(11):1085-93
(Latest) J:187839 Staropoli JF, et al., Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system. PLoS One. 2012;7(6):e38310
All references(48)

Other accession IDs

MGD-MRK-34102, MGI:106408, MGI:1202067, MGI:1923774, MGI:2143349