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Phenotypes Associated with This Genotype
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp13a2tm1.2Wtd mutation (0 available); any Atp13a2 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• 18 month old mice clasp their rear limbs during tail suspension
• mice show decreased spontaneous horizontal movement in the open field
• however, 18 month old mice show normal rotarod performance and rearing behavior

• mice show selective defects in autophagy function

nervous system
• brains exhibit an increase in gliosis throughout many brain regions, including, but not limited to, cortex, striatum, hippocampus, cerebellum, thalamus, and midbrain, at 18 months of age
• gliosis in the cortex is seen as early as 1 month of age which increases with age
• mice exhibit large ubiquitin-positive protein aggregates by 12 months of age, most prominent in the cortex and hippocampus; inclusions localize within neurons
• neurons accumulate lipid droplets which are larger and more numerous than in controls and are associated with lipofuscin
• however, no alpha-synuclein abnormalities are seen and no ubiquitin- or alpha-synuclein-positive aggregates are seen in dopaminergic cells and mice exhibit normal numbers of dopaminergic neurons

• mice exhibit increased lipofuscinosis in multiple brain regions at 3 months of age
• lipofuscin deposits consist of large, electron dense material, frequently containing membranous structures, in close association with large lipid droplets

• age-dependent accumulation of lysosomal proteins and lipids lysosomal accumulation in multiple brain regions
• mice show selective defects in autophagy function
• endolysosomal pathway dysfunction characterized by decreased cathepsin D processing and decreased clearance of autophagic substrates, however lysosomal function appears normal
• accumulation of lysosomal proteins by 6 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Kufor-Rakeb syndrome DOID:0060556 OMIM:606693

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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last database update
MGI 6.15
The Jackson Laboratory