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Phenotypes Associated with This Genotype
Genotype
MGI:2386740
Allelic
Composition
Abcb1atm1Bor/Abcb1atm1Bor
Npc1m1N/Npc1m1N
Genetic
Background
involves: 129/Ola * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcb1atm1Bor mutation (3 available); any Abcb1a mutation (34 available)
Npc1m1N mutation (2 available); any Npc1 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• neurological symptoms apparent and progressive, beginning at ~ day 50 of life
• failed to care for pups

homeostasis/metabolism
• cholesterol accumulation in liver

reproductive system
N
• mice were fertile

liver/biliary system
• cholesterol accumulation in liver

Mouse Models of Human Disease
OMIM ID Ref(s)
Niemann-Pick Disease, Type C1; NPC1 257220 J:76395


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
06/22/2016
MGI 6.04
The Jackson Laboratory