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Gene Ontology Classifications
Symbol
Name
ID
Cln3
ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
MGI:107537

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GO curators for mouse genes have assigned the following annotations to the gene product of Cln3. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of April 16, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Cao Y et al. (2006) Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J Biol Chem, 281:20483-93. (PubMed:16714284)
  2. Chang JW et al. (2007) Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin. Hum Mol Genet, 16:317-26. (PubMed:17189291)
  3. Fossale E et al. (2004) Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis. BMC Neurosci, 5:57. (PubMed:15588329)
  4. Greene ND et al. (1999) A murine model for juvenile NCL: gene targeting of mouse Cln3. Mol Genet Metab, 66:309-13. (PubMed:10191119)
  5. Katz ML et al. (1999) A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease). J Neurosci Res, 57:551-6. (PubMed:10440905)
  6. Kovacs AD et al. (2006) Selectively increased sensitivity of cerebellar granule cells to AMPA receptor-mediated excitotoxicity in a mouse model of Batten disease. Neurobiol Dis, 22:575-85. (PubMed:16483786)
  7. Mitchison HM et al. (1999) Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. Neurobiol Dis, 6:321-34. (PubMed:10527801)
  8. Pearce DA et al. (2003) Altered amino acid levels in sera of a mouse model for juvenile neuronal ceroid lipofuscinoses. Clin Chim Acta, 332:145-8. (PubMed:12763292)
  9. Pears MR et al. (2005) High resolution 1H NMR-based metabolomics indicates a neurotransmitter cycling deficit in cerebral tissue from a mouse model of Batten disease. J Biol Chem, 280:42508-14. (PubMed:16239221)
  10. Pohl S et al. (2007) Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue. J Neurochem, 103:2177-88. (PubMed:17868323)
  11. Weimer JM et al. (2006) Visual deficits in a mouse model of Batten disease are the result of optic nerve degeneration and loss of dorsal lateral geniculate thalamic neurons. Neurobiol Dis, 22:284-93. (PubMed:16412658)
  12. Wendt KD et al. (2005) Behavioral assessment in mouse models of neuronal ceroid lipofuscinosis using a light-cued T-maze. Behav Brain Res, 161:175-82. (PubMed:15885820)



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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory