Mice homozygous for the recessive NIH allele of the Niemann Pick type C1 gene (Npc1m1N) show a dual deficiency of sphingomyelinase and glucocerebrosidase activity. The overall phenotype resembles the sphingomyelinosis condition seen in mice homozygous for the sphingomyelinosis allele (Npc1spm, Stock No. 002760). Sphingomyelinosis closely resembles that of human Niemann-Pick Type C disease patients.Read More +
This mutation arose on the BALB/cNctr inbred background at the National Center for Toxicology Research (Jefferson, Arkansas) in 1975. The mutant allele consists of 824 bp of MaLR retroposon-like DNA which replaced 703 bp of wild-type genomic sequence. The mice were transferred to The Jackson Laboratory in 1982 from Dr. William Pavan (NIH).
|Allele Name||Niemann Pick type C1 NIH|
|Allele Synonym(s)||-npc; CSD; NPC; NPC1; NPC1-; Npc-; Npc1N; lcsd; lysosomal cholesterol storage disease; nctr; npc1NIH; npcnih|
|Gene Symbol and Name||Npc1, NPC intracellular cholesterol transporter 1|
|Gene Synonym(s)||A430089E03Rik; A430089E03Rik; C85354; C85354; Cdig2; D18Ertd139e; D18Ertd139e; D18Ertd723e; D18Ertd723e; DNA segment, Chr 18, ERATO Doi 139, expressed; DNA segment, Chr 18, ERATO Doi 723, expressed; NPC; RIKEN cDNA A430089E03 gene; SLC65A1; SLC66A1; expressed sequence C85354; lcsd; lcsd; lysosomal cholesterol storage disease; neuroscience mutagenesis facility, 164; nmf164; nmf164; sphingomyelinosis; spm|
|Strain of Origin||BALB/c|
|Molecular Note||824 bp of MaLR retroposon-like DNA replaced 703 bp of wild-type genomic sequence spanning 44 bp of an exon and 659 bp of the downstream intron. The insertion results in premature truncation of the protein deleting 11 out of 13 transmembrane domains. Northern blot analysis revealed marked decrease in gene expression in liver and brain from homozygous mutant animals.|
When maintaining a live colony, heterozygous mice may be bred to wildtype siblings. Homozygotes die at about 12 to 14 weeks of age.
When using the npcnih mouse strain in a publication, please cite the originating article(s) and include JAX stock #003092 in your Materials and Methods section.
|Heterozygous or Wild-type for Npc1<m1N>|
We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.
|Frozen Mouse Embryo||$2,595.00 per straw or vial|
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