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Npc1m1N
Spontaneous Allele Detail
Nomenclature
Symbol: Npc1m1N
Name: Niemann-Pick type C1; Niemann Pick type C1 NIH
MGI ID: MGI:1857409
Synonyms: CSD, lcsd, lysosomal cholesterol storage disease, nctr, -npc, Npc-, NPC, NPC1, NPC1-, Npc1N, npc1NIH, npcnih
Gene: Npc1  Location: Chr18:12189693-12236400 bp, - strand  Genetic Position: Chr18, 6.15 cM
Neurodegenerative changes affecting cerebullar Purkinje cells of Npc1m1N/Npc1m1N, Npc2tm1Plob/Npc2tm1Plob, and double homozygous mice for Npc1m1N and Npc2tm1Plob

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  BALB/c
Mutation
description
Allele Type:    Spontaneous
Mutation:    Transposon insertion
 
Mutation details824 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. (J:41469)
Inheritance:    Recessive
Phenotypes
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Disease models
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Expression
In Mice Carrying this Mutation: 2 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Npc1 Mutation:  15 strains or lines available
References
Original:  J:83826 Morris MD, et al., Tissue cholesterol storage disorder in BALB/c mice. Fed Proc. 1977;36:1158 (Abstr.)
All:  159 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/17/2015
MGI 5.21
The Jackson Laboratory