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 +
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|
|Gene Symbol and Name||Cln6, ceroid-lipofuscinosis, neuronal 6|
|Strain of Origin||Mixed stock|
|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.|