Stock B6.129S6-Cln3<tm1Nbm>/H

FESA Number

4948

Strain Name

B6.129S6-Cln3<tm1Nbm>/H

Mutation Strain Type

Mutation Type Mutation Subtype Strain Type
IMSR - Targeted mutation - Knock out IMSR - mutant strain

Attribution

Institution name Depositor / Originator Name
Unknown Institution Depositor Retained

Gene/Allele Information

Allele Name Allele MGI ID Gene Name Gene MGI ID Chromosome
Cln3<tm1Nbm> MGI:1933976 Cln3 MGI:107537 7

Phenotypic Description

Mouse model of Juvenile onset Batten disease (Neuronal Ceroid Luipofuscinosis)

Orphanet Disorders

Publications

Displaying 1 - 10 of 29 Stock Publications
Pubmed ID Authors Title Journal
12559844 Brooks AI Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease. Mol Genet Metab (2 003) 78:17-30
23707513 Palmer DN NCL disease mechanisms. Biochim Biophys Acta (2 013) 1832:1882-93
17931875 Castaneda JA Identification of alpha-fetoprotein as an autoantigen in juvenile Batten disease. Neurobiol Dis (2 008) 29:92-102
12763292 Pearce DA Altered amino acid levels in sera of a mouse model for juvenile neuronal ceroid lipofuscinoses. Clin Chim Acta (2 003) 332:145-8
19284480 Chan CH Altered arginine metabolism in the central nervous system (CNS) of the Cln3-/- mouse model of juvenile Batten disease. Neuropathol Appl Neurobiol (2 009) 35:189-207
16239221 Pears MR High resolution 1H NMR-based metabolomics indicates a neurotransmitter cycling deficit in cerebral tissue from a mouse model of Batten disease. J Biol Chem (2 005) 280:42508-14
17189291 Chang JW Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin. Hum Mol Genet (2 007) 16:317-26
17868323 Pohl S Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue. J Neurochem (2 007) 103:2177-88
12023984 Chattopadhyay S An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease. Hum Mol Genet (2 002) 11:1421-31
15374749 Pontikis CC Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation. Brain Res (2 004) 1023:231-42

Pages

Human Disease Links

Juvenile onset Batten disease (Neuronal Ceroid Luipofuscinosis) (OMIM ID: 204200)

Orphanet Categories

Inborn errors of metabolism
Rare neurologic disease

EMMA ID

EM:06145

Genetic Status

GMO

Background Strain Name

C57BL/6J

Background Strain MGI ID

MGI:3028467

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