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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 (93 available)
Npc1m1N mutation (3 available); any Npc1 mutation (74 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
abnormal motor capabilities/coordination/movement ( J:76395 )
• neurological symptoms apparent and progressive, beginning at ~ day 50 of life
abnormal maternal nurturing ( J:76395 )
• failed to care for pups

homeostasis/metabolism
increased liver cholesterol level ( J:76395 )
• cholesterol accumulation in liver

reproductive system
reproductive system phenotype ( J:76395 )
N
• mice were fertile

liver/biliary system
increased liver cholesterol level ( J:76395 )
• cholesterol accumulation in liver

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Niemann-Pick disease DOID:14504 J:76395

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory