Mouse Genome Informatics
hm
    Ppt1tm1Hof/Ppt1tm1Hof
involves: 129P2/OlaHsd * 129S2/SvPas * 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mutants die by 35 weeks of age, with a median survival of 33 weeks

nervous system
• mutants exhibit immune cell infiltration in the brain, with an increase in CD45+ leukocytes, CD3+ T-cells, and CD68+ large monocytes
• mutants exhibit a 2.6-fold increase in autofluorescent accumulation in the brain compared to wild-type mice
• decrease in brain weight by 13.4% is seen by 6 months of age
• atrophy of the primary visual cortex
• at 6 months of age, 21.6% decrease in cortical thickness
• by 5 months of age, brain atrophy is apparent
• reactive astrocytosis
• mutants exhibit progressive neurodegeneration, with degenerating neurons within the corpus callosum, hippocampus, and thalamus at 5 months of age

homeostasis/metabolism
• mutants exhibit elevated cytokine and chemokine levels at 3 months of age
• fewer cytokines and chemokines are elevated in single mutant mice than in triple Ppt1, Gfap and Vim homozygotes

immune system
• mutants exhibit elevated cytokine and chemokine levels at 3 months of age
• fewer cytokines and chemokines are elevated in single mutant mice than in triple Ppt1, Gfap and Vim homozygotes
• mutants exhibit immune cell infiltration in the brain, with an increase in CD45+ leukocytes, CD3+ T-cells, and CD68+ large monocytes

Mouse Models of Human Disease
OMIM IDRef(s)
Ceroid Lipofuscinosis, Neuronal, 3; CLN3 204200 J:177265