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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 details
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:  13 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:  153 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
08/26/2014
MGI 5.19
The Jackson Laboratory