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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Npc1tm1.2Apl
targeted mutation 1.2, Andrew P Lieberman
MGI:4431253
Summary 3 genotypes


Genotype
MGI:4436743
hm1
Allelic
Composition		 Npc1tm1.2Apl/Npc1tm1.2Apl
Genetic
Background		 C57BL/6-Npc1tm1.2Apl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npc1tm1.2Apl mutation (0 available); any Npc1 mutation (72 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:157113 )
• similar to in Npc1m1N homozygotes

behavior/neurological

growth/size/body
weight loss ( J:157113 )
• similar to in Npc1m1N homozygotes




Genotype
MGI:4436744
ht2
Allelic
Composition		 Npc1m1N/Npc1tm1.2Apl
Genetic
Background		 B6.Cg-Npc1m1N/Npc1tm1.2Apl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npc1m1N mutation (3 available); any Npc1 mutation (72 available)
Npc1tm1.2Apl mutation (0 available); any Npc1 mutation (72 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:157113 )
• mice die around 49 days of age
• no mice survive longer than 9 weeks

nervous system

behavior/neurological
impaired coordination ( J:157113 )
• on a rotarod

growth/size/body
decreased body size ( J:157113 )
• at weaning
weight loss ( J:157113 )
• at 7 weeks of age

homeostasis/metabolism
increased cholesterol level ( J:157113 )
• mice exhibit an increase in unestrified cholesterol in the cerebellum compared with wild-type mice

cellular
foam cell reticulosis ( J:157113 )
• mice exhibit proliferation of foamy cells in the liver unlike wild-type mice

immune system

hematopoietic system

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Niemann-Pick disease DOID:14504 J:157113




Genotype
MGI:4436742
cn3
Allelic
Composition		 Npc1tm1.1Apl/Npc1tm1.2Apl
Tg(Pcp2-cre)2Mpin/0
Genetic
Background		 B6.Cg-Npc1tm1.1Apl/Npc1tm1.2Apl Tg(Pcp2-cre)2Mpin
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npc1tm1.1Apl mutation (0 available); any Npc1 mutation (72 available)
Npc1tm1.2Apl mutation (0 available); any Npc1 mutation (72 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
mortality/aging ( J:157113 )
N
• mice do not exhibit premature death

nervous system
nervous system phenotype ( J:157113 )
N
• Purkinje cells exhibit normal electrophysiology
Purkinje cell degeneration ( J:157113 )
• as early as 5.5 to 7 weeks, mice exhibit loss of Purkinje cells unlike wild-type mice
• by 10 weeks, mice exhibit a 15% loss of Purkinje cells in lobule X compared with wild-type mice
• however, no further loss of Purkinje cells in lobule X occur between 10 and 20 weeks
• Purkinje cell loss in lobules II-V is greater than 75% at 10 weeks and approaches 100% by 15 weeks

behavior/neurological
tremors ( J:157113 )
• by 13 weeks
impaired coordination ( J:157113 )
• by 10 weeks, mice exhibit difficulties traversing a balance beam unlike wild-type mice
• by 15 weeks, mice exhibit impaired performance on a rotarod compared with wild-type mice
• motor defects are age-dependent

homeostasis/metabolism
increased cholesterol level ( J:157113 )
• mice exhibit age-dependent unesterified cholesterol accumulation in Purkinje cells unlike in wild-type mice

growth/size/body
growth/size/body region phenotype ( J:157113 )
N
• mice do not exhibit weight loss

immune system

hematopoietic system




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
04/16/2024
MGI 6.23 		The Jackson Laboratory