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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 (5 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/19/2019
MGI 6.13
The Jackson Laboratory