|
Symbol Name ID |
Ercc3
excision repair cross-complementing rodent repair deficiency, complementation group 3 MGI:95414 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Photophobia |
Spasticity |
Basal ganglia calcification |
Abnormal CNS myelination |
Cerebral dysmyelination |
Ventriculomegaly |
Cerebral cortical atrophy |
Partial agenesis of the corpus callosum |
Periventricular leukomalacia |
Cerebellar atrophy |
Diffuse cerebellar atrophy |
Ataxia |
Gait ataxia |
Abnormality of extrapyramidal motor function |
Intention tremor |
Abnormal pyramidal sign |
Paraplegia/paraparesis |
EEG abnormality |
Decreased nerve conduction velocity |
Dysarthria |
Reduced social responsiveness |
Cognitive impairment |
Intellectual disability |
Diminished deep tendon reflex |
Hyporeflexia |
Hyperreflexia |
Generalized hyperreflexia |
Developmental regression |
Global developmental delay |
Seizure |
Generalized-onset seizure |
Peripheral neuropathy |
| Disease(s) Associated with ERCC3 | |||||||||||||||||||||||||||||||||
| photosensitive trichothiodystrophy 2 | |||||||||||||||||||||||||||||||||
| trichothiodystrophy | |||||||||||||||||||||||||||||||||
| xeroderma pigmentosum | |||||||||||||||||||||||||||||||||
| xeroderma pigmentosum group B |
| Mouse Phenotypes | decreased prepulse inhibition |
|
| Availability | Mouse Genotype | |
| Ercc3tm1b(NCOM)Mfgc/Ercc3+ | ||
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 07/14/2026 MGI 6.24 |
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