These mice carry a spontaneous mutation at the Cln6 locus characterized by abnormal proteolipid storage in lysosomes and progressive retinal degeneration at an early age.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Cln6 | ceroid-lipofuscinosis, neuronal 6 |
Mice homozygous for the neuronal ceroid lipofuscinosis mutation (nclf) have a phenotype that is very similar to mice homozygous for the motor neuron degeneration mutation (mnd). Homozygous mutant mice display abnormal proteolipid storage by lysosomes termed neuronal ceroid lipofuscinosis. Mice also develop progressive retinal degeneration at an early age. Affected neuronal lysosomes show abnormal morphology. Severe cerebral gliosis and Wallerian degeneration of long neuronal tracts occur late in the disease and account for the motor neuron abnormalities and eventual paralysis. Homozygotes live to approximately 9 months of age.
The nclf mutation was discovered in 1991 at The Jackson Laboratory in a colony of mice of mixed C57BL/6J, C57BL/10J and C3Heb/FeJLe-a/a background carrying the juvenile bare (jb) mutation. The neurological phenotype was lost from the jb stock as inbreeding progressed, but fortunately, embryos had been preserved before nclf was bred out of the stock. nclf was backcrossed onto C57BL/6J to determine whether this mutation causes retinal degeneration in the absence of the C3H-derived Pdebrd1 .
Allele Name | neuronal ceroid lipofuscinosis |
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Allele Type | Spontaneous |
Allele Synonym(s) | nclf |
Gene Symbol and Name | Cln6, ceroid-lipofuscinosis, neuronal 6 |
Gene Synonym(s) | |
Strain of Origin | Mixed stock |
Chromosome | 9 |
Molecular Note | This allele comprises a single nucleotide insertion of a cysteine, located within a run of cysteines in exon four. The insertion produces a frameshift at amino acid 103, followed by a premature stop codon. |
When using the nclf mouse strain in a publication, please cite the originating article(s) and include JAX stock #003605 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous for Cln6<nclf> |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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