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
| OrphaNet ID | Name | Url |
|---|---|---|
| 228 346 | CLN3 disease | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228346 |
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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