These mice carry a spontaneous mutation at the Cln6 locus characterized by abnormal proteolipid storage by lysosomes (neuronal ceroid lipofuscinosis).Read More +
This strain is homozygous for the retinal degeneration allele Pde6brd1.
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 STOCK background carrying the nclf mutation is a mixture of C57BL/6, C57BL/10, and C3HeB/FeJLe inbred strains. It is also wildtype for the juvenile bare spontaneous mutation (+jb).
|Gene Symbol and Name||a, nonagouti|
|Strain of Origin||old mutant of the mouse fancy|
|General Note||Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039|
|Molecular Note||Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats (beta4 retroviral sequence). The host integration site is the same as for at-2Gso and Aw-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type.|
|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.|
When maintaining a live colony, homozygous mice may be bred together.
When using the neuronal ceroid lipofuscinosis mouse strain in a publication, please cite the originating article(s) and include JAX stock #002648 in your Materials and Methods section.