About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5585410
Allelic
Composition
Ppt1tm1.1Dprc/Ppt1tm1.1Dprc
Genetic
Background
involves: 129S6/SvEvTac * BALB/cJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppt1tm1.1Dprc mutation (1 available); any Ppt1 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• reactive microglia
• mice exhibit an increase in CD68-positive cells in cortex, thalamus and hippocampus
• cells have a macrophage-like appearance with rounded cell bodies and shortened processes in the cortex, thalamus and hippocampus
• mice exhibit an increase in GFAP immunoreactivity in the cortex, thalamus and hippocampus as compared to controls
• astrocytes throughout the brain appear hypertrophied with enlarged cell soma and thickened processes as compared to controls

pigmentation
• autofluorescent storage material is observed in the cortex, thalamus and hippocampus of 5 month old mice

hematopoietic system
• reactive microglia
• mice exhibit an increase in CD68-positive cells in cortex, thalamus and hippocampus
• cells have a macrophage-like appearance with rounded cell bodies and shortened processes in the cortex, thalamus and hippocampus

immune system
• reactive microglia
• mice exhibit an increase in CD68-positive cells in cortex, thalamus and hippocampus
• cells have a macrophage-like appearance with rounded cell bodies and shortened processes in the cortex, thalamus and hippocampus

behavior/neurological
• males exhibit decreased exploration, staying in a large Petri dish longer than wild-type mice at 3 and 5 months of age
• in a modified vertical pole test, 3 and 5 month old mutants climb down on the pole slower and turn downward on the pole slower than wild-type mice
• 3 month old mutants fall from the rotating rod sooner than wild-type mice, however performance is similar to wild-type mice at 5 months of age

growth/size/body
• mice are heavier at 3 months of age, however the weight difference is gone by 5 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neuronal ceroid lipofuscinosis 1 DOID:0110721 OMIM:256730
J:213552


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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/16/2024
MGI 6.23
The Jackson Laboratory