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Phenotypes Associated with This Genotype
Genotype
MGI:3804722
Allelic
Composition
Tpp1tm1Plob/Tpp1tm1Plob
Genetic
Background
B6.129S1-Tpp1tm1Plob
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tpp1tm1Plob mutation (0 available); any Tpp1 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: survival to an average age of 132 days (135-138), shorter than on a 129S1/Sv background

behavior/neurological
• a constant tremor is noticeable around 7 weeks of age which becomes more pronounced with age
• mutants eventually develop ataxia and abnormal gait
• at around 4 months of age, mutants show a shortened stride with splaying of the rear limbs

nervous system
• accumulation of a small proteolipid, subunit C of mitochondrial ATP synthase (SCMAS) in the brain is detected by 60 days of age and increases as mice age
• levels of SCMAS are elevated in the Purkinje cell layer of the cerebellar cortex at 4 months of age

cellular
• significant accumulation of punctuate cytoplasmic autofluorescent lysosomal storage material in the cerebral cortex at 128 days of age
• significant accumulation of punctuate cytoplasmic autofluorescent lysosomal storage material in the cerebral cortex at 128 days of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neuronal ceroid lipofuscinosis 2 DOID:0110726 OMIM:204500
J:136105


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
01/18/2022
MGI 6.17
The Jackson Laboratory