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Cln8 Gene Detail
Summary
  • Symbol
    Cln8
  • Name
    ceroid-lipofuscinosis, neuronal 8
  • Feature Type
    protein coding gene
  • IDs
    MGI:1349447
    NCBI Gene: 26889
  • Gene Overview
    MyGene.info: CLN8
Location & Maps
more
  • Sequence Map
    Chr8:14881335-14901720 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      20386 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 7.59 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    CLN8, ceroid-lipofuscinosis, neuronal 8
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CLN8, ceroid-lipofuscinosis, neuronal 8
    Orthology source: HGNC, HomoloGene
  • Synonyms
    C8orf61, EPMR
  • Links
    NCBI Gene ID: 2055
    neXtProt AC: NX_Q9UBY8

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

  • HomoloGene
    Vertebrate Homology Class 10340
    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
Human Diseases
more
  • Diseases
    1 with Cln8 mouse models; 2 with human CLN8 associations

Human Disease Mouse Models
       Ceroid Lipofuscinosis, Neuronal, 8; CLN8   OMIM: 600143 View 4 models
       Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant   OMIM: 610003
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 1 allele in 6 genetic backgrounds
    56 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Gene trapped
    2
  • Spontaneous
    1
  • Targeted
    3
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    153 from dbSNP Build 142
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000005594 protein CLN8
  • InterPro Domains
    IPR006634 TRAM/LAG1/CLN8 homology domain
Molecular
Reagents
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  • All nucleic 22
    cDNA 19
    Primer pair 2
    Other 1

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-12334, MGI:97038
References
more
  • Summaries
    All 88
    Developmental Gene Expression 3
    Diseases 2
    Gene Ontology 29
    Phenotypes 56
  • 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

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
07/19/2016
MGI 6.04
The Jackson Laboratory