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.
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 mutant mice begin to lose weight and to show tremor and ataxic gait at about 7 weeks of age. Weight loss continues and tremor and ataxia become more severe until death at about 12 to 14 weeks of age. The liver and spleen are also enlarged and Purkinje cells in the cerebellum are severely depleted. Sphingomyelin and free cholesterol are markedly elevated in liver and spleen but not in brain. Sphingomyelinosis closely resembles that of human Niemann-Pick Type C disease patients.
|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, Niemann-Pick type C1|
|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; 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.|
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