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Cln3 Gene Detail
Summary
  • Symbol
    Cln3
  • Name
    ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
  • Synonyms
    battenin
  • Feature Type
    protein coding gene
  • IDs
    MGI:107537
    NCBI Gene: 12752
  • Gene Overview
    MyGene.info: CLN3
Location & Maps
more
  • Sequence Map
    Chr7:126571207-126585817 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      14611 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 69.16 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    CLN3, CLN3, battenin
  • Vertebrate Orthologs
    7
  • Human Ortholog
    CLN3, CLN3, battenin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BTN1, BTS, JNCL
  • Links
    NCBI Gene ID: 1201
    neXtProt AC: NX_Q13286
    UniProt: Q13286

  • Chr Location
    16p12.1; chr16:28466653-28492302 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Cln3 mouse models; 1 with human CLN3 associations

Human Disease Mouse Models
      
IDs
 View 6 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    44 phenotypes from 4 alleles in 6 genetic backgrounds
    58 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.
Nullizygous mutations can result in neuronal ceroid lipofuscinosis, degeneration of the retina, cerebral cortex and cerebellum, hypertrophy of hippocampal interneuron populations, gliosis, neurological deficits, and premature death. Homozygotes for a null allele show impaired water and K+ balance.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    71
  • GO References
    18
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
    81
  • Tissues
    59
  • cDNA Data
    71
  • Literature Summary
    4
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019900 VEGA Gene Model | MGI Sequence Detail 14611 C57BL/6J ±  kb
transcript OTTMUST00000047437 VEGA | MGI Sequence Detail 3203 Not Applicable  
polypeptide OTTMUSP00000021443 VEGA | MGI Sequence Detail 438 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    113 from dbSNP Build 142
  • RFLP
    1
Protein
Information
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  • UniProt
    10 Sequences
  • InterPro Domains
    IPR003492 Batten's disease protein Cln3
    IPR018460 Batten's disease protein Cln3, subgroup
    IPR020846 Major facilitator superfamily domain
Molecular
Reagents
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  • All nucleic 71
    cDNA 71

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-36107, MGI:2141907
References
more
  • Summaries
    All 89
    Developmental Gene Expression 4
    Diseases 6
    Gene Ontology 18
    Phenotypes 58
  • Earliest
    J:34626 Lee RL, et al., Isolation and chromosomal mapping of a mouse homolog of the Batten disease gene CLN3. Genomics. 1996 Aug 1;35(3):617-9
  • Latest
    J:237216 Oetjen S, et al., Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis. J Neurochem. 2016 Nov;139(3):456-470
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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Send questions and comments to User Support. 		last database update
08/08/2017
MGI 6.10 		The Jackson Laboratory