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Symbol
Name
ID
Tpp1
tripeptidyl peptidase I
MGI:1336194
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Dysphagia
Oculomotor apraxia
Cerebral atrophy
Cerebellar atrophy
Increased extraneuronal autofluorescent lipopigment
Increased neuronal autofluorescent lipopigment
Ataxia
Dysmetria
Gait ataxia
Limb ataxia
Clumsiness
Myoclonus
Postural tremor
Truncal titubation
Babinski sign
Abnormal nervous system electrophysiology
Delayed speech and language development
Dysarthria
Scanning speech
Hyperreflexia
Unsteady gait
Developmental regression
Seizure
Impaired vibratory sensation
Disease(s) Associated with TPP1
autosomal recessive spinocerebellar ataxia 7
neuronal ceroid lipofuscinosis 2

Mouse Phenotypes
seizures
audiogenic seizures
abnormal brain morphology
abnormal Purkinje cell morphology
Purkinje cell degeneration
neuronal cytoplasmic inclusions
neurodegeneration
demyelination
Availability Mouse Genotype
Tpp1m1J/Tpp1m1J
Tpp1tm1.1Plob/Tpp1tm1.1Plob
Tpp1tm1Dgen/Tpp1tm1Dgen
Tpp1tm1Plob/Tpp1tm1Plob
Tpp1tm1Plob/Tpp1tm1.1Plob

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
04/30/2024
MGI 6.23
The Jackson Laboratory