Symbol Name ID |
Tpp1
tripeptidyl peptidase I MGI:1336194 |
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 |
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Availability | Mouse Genotype | ||||||||
Tpp1m1J/Tpp1m1J | |||||||||
Tpp1tm1.1Plob/Tpp1tm1.1Plob | |||||||||
Tpp1tm1Dgen/Tpp1tm1Dgen | |||||||||
Tpp1tm1Plob/Tpp1tm1Plob | |||||||||
Tpp1tm1Plob/Tpp1tm1.1Plob |
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 09/03/2024 MGI 6.24 |
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