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Phenotypes Associated with This Genotype
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tpp1tm1Plob mutation (0 available); any Tpp1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• Background Sensitivity: survival to an average of 138 days, with most dying between 108-169 days of age; survival is slightly shorter than on a 129S1/Sv background

• slight, constant tremor develops at 7 weeks of age; increasing severity with age
• observed with advanced age
• in a rotarod test, activity of mutants was normal until 14 weeks of age, then became severely reduced in ability compared to controls
• in a rocking rotating rod test, impaired performance was noted after 10 weeks of age
• observed with advanced age; hunched gait with outward pointing feet and splayed hind limbs and side to side shaking while walking
• decreased rearing activity
• apparent fatal startle seizures were observed that were induced by stimuli such as a loud noise

• accumulation of ceroid lipofuscin within the lysosomal compartment was observed from 48 days of age in neocortex samples; accumulation of additional material was seen with age; also observed in most other brain regions
• accumulation of curvilinear storage bodies was apparent in cortex at 35 days of age; was also observed in other tissues, but without overt cytopathology

nervous system
• apparent fatal startle seizures were observed that were induced by stimuli such as a loud noise
• neuronal degeneration of particular brain areas was observed; these areas include auditory pathways but not visual pathways
• mild atrophy of forebrain structures including the hippocampus and overlying neocortex; loss of neurons
• variable in extent and with age; most prominent in lobules III and IV of the cerebellum
• disorganized myelin sheaths with dilations suggesting degeneration

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neuronal ceroid lipofuscinosis 2 DOID:0110726 OMIM:204500

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 6.22
The Jackson Laboratory