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Phenotypes Associated with This Genotype
Genotype
MGI:4359169
Allelic
Composition
Npc1m1N/Npc1m1N
Nr1h2tm1Djm/Nr1h2tm1Djm
Genetic
Background
involves: 129S6/SvEvTac * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npc1m1N mutation (2 available); any Npc1 mutation (40 available)
Nr1h2tm1Djm mutation (3 available); any Nr1h2 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die between 60 and 90 days of age from neurodegenerative disease, which is significantly faster than Npc1 mutants on a wild-type background

Mouse Models of Human Disease
OMIM ID Ref(s)
Niemann-Pick Disease, Type C1; NPC1 257220 J:130969


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
09/13/2016
MGI 6.05
The Jackson Laboratory