|
Symbol Name ID |
Ctsd
cathepsin D MGI:88562 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Spasticity |
Sensory axonal neuropathy |
Cerebral atrophy |
Cerebellar atrophy |
Increased neuronal autofluorescent lipopigment |
Neuronal loss in central nervous system |
Ataxia |
Mental deterioration |
Intellectual disability, progressive |
Intellectual disability, severe |
Seizure |
Myoclonic seizure |
Status epilepticus |
| Disease(s) Associated with CTSD | ||||||||||||||
| neuronal ceroid lipofuscinosis 10 |
| Mouse Phenotypes | seizures |
tonic seizures |
increased forebrain apoptosis |
abnormal microglial cell morphology |
microgliosis |
hippocampal neuron degeneration |
astrocytosis |
gliosis |
retina photoreceptor degeneration |
neuron degeneration |
abnormal cochlear ganglion morphology |
axonal dystrophy |
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| Availability | Mouse Genotype | ||||||||||||
| Ctsdm1J/Ctsdm1J | |||||||||||||
| Ctsdtm1Cptr/Ctsdtm1Cptr | |||||||||||||
| Ctsdtm1.1Thre/Ctsdtm1.1Thre Tg(Nes-cre)1Kln/0 (conditional) |
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| Ctsdtm1.1Thre/Ctsdtm1.1Thre Edil3Tg(Sox2-cre)1Amc/Edil3+ (conditional) |
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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 |
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