The targeted Npc1 gene encodes an intracellular cholesterol transporter. Mutations in this gene have been associated with Niemann-Pick type C1 disease. These mice carry a
mutant allele of the Npc1 gene, consisting of a 824 bp MaLR retroposon-like DNA which replaced 703 bp of wild-type genomic sequence spanning 44 bp of an exon and 659 bp of the downstream intron. 
A truncated gene product (mRNA) is detected by Northern blot analysis of liver and brain tissue and isolated mouse fibroblasts from homozygous mice. No protein is detected by Western blot analysis of liver from homozygotes. 


Mutants on the C57BL/6J background exhibit an earlier onset and more severe phenotype than mutants on the BALB/c background. Onset of progressive weight loss is at about 4 weeks of age, tremor and ataxic gait onset is at 7 weeks of age, with an average lifespan of approximately 80 days for homozygous mice on the BALB/c background. Homozygous mice on the BALB/c background exhibit enlarged liver and spleen, degeneration and loss of Purkinje cells, and elevated levels of sphingomyelin and free cholesterol in the liver and spleen. Homozygotes on the C57BL/6J background often die by the time of weaning (4 weeks of age), are smaller than controls at weaning and die by about 9 weeks of age. When fed a low-fat diet (10% kcal fat), heterozygotes on the C57BL/6J background, at 10 weeks of age, exhibit impaired glucose tolerance compared to heterozygotes on the BALB/cJ background and wildtype C57BL/6J mice.




 
The Npc1m1N allele is also available on a FVB/NJ congenic background (Stock No. <a href="https://www.jax.org/strain/021755">021755</a>) and the BALB/cNctr background (Stock No. <a href="https://www.jax.org/strain/003092">003092</a>).

These mice carry the Npc1m1N allele of the Niemann Pick type C1 gene. Homozygotes on the congenic C57BL/6J background exhibit an earlier onset and more severe phenotype than mutants on the BALB/cJ background. These mice may be suitable for use in studies related to Niemann-Pick Type C disease.

A minimum of two mice must be ordered. Additional mice will be charged on a per-mouse basis. Click the “Details” button to learn more.

Our minimum guarantee for cryorecovery orders is 2 carriers. To ensure that your colony can be rapidly expanded upon arrival, additional carriers may be added to your order.