|
Symbol Name ID |
Ercc8
excision repaiross-complementing rodent repair deficiency, complementation group 8 MGI:1919241 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Primary microcephaly |
Progressive microcephaly |
Abnormality of visual evoked potentials |
Photophobia |
Spasticity |
Lower limb spasticity |
Difficulty walking |
Cerebellar dentate nucleus calcification |
Cerebral calcification |
Basal ganglia calcification |
Subcortical white matter calcifications |
Abnormality of the nervous system |
Gliosis |
Cerebral dysmyelination |
Patchy demyelination of subcortical white matter |
Abnormal peripheral myelination |
Peripheral dysmyelination |
Demyelinating peripheral neuropathy |
Peripheral axonal neuropathy |
Normal pressure hydrocephalus |
Ventriculomegaly |
Cerebral atrophy |
Cerebellar atrophy |
Ataxia |
Progressive gait ataxia |
Tremor |
Action tremor |
Intention tremor |
Abnormal auditory evoked potentials |
Absent brainstem auditory responses |
Abnormality of peripheral nerve conduction |
Decreased nerve conduction velocity |
Absent speech |
Dysarthria |
Atypical behavior |
Cognitive impairment |
Mental deterioration |
Dementia |
Intellectual disability |
Sleep abnormality |
Hyperreflexia |
Areflexia |
Hyporeflexia |
Gait disturbance |
Inability to walk |
Postural instability |
Stooped posture |
Developmental regression |
Global developmental delay |
Peripheral neuropathy |
Polyneuropathy |
Sensorimotor neuropathy |
Seizure |
Somatic sensory dysfunction |
| Disease(s) Associated with ERCC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cockayne syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cockayne syndrome A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| UV-sensitive syndrome |
| Mouse Phenotypes | cochlear inner hair cell degeneration |
cochlear outer hair cell degeneration |
microgliosis |
astrocytosis |
retina photoreceptor degeneration |
|
| Availability | Mouse Genotype | |||||
| Ercc8tm1Jhjh/Ercc8tm1Jhjh | ||||||
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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