|
Symbol Name ID |
Ercc6
excision repair cross-complementing rodent repair deficiency, complementation group 6 MGI:1100494 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Primary microcephaly |
Progressive microcephaly |
Decreased CSF 5-hydroxyindolacetic acid concentration |
Elevated circulating follicle stimulating hormone level |
Abnormality of visual evoked potentials |
Photophobia |
Spasticity |
Lower limb spasticity |
Scissor gait |
Difficulty walking |
Cerebellar calcifications |
Cerebellar dentate nucleus calcification |
Cerebral calcification |
Basal ganglia calcification |
Subcortical white matter calcifications |
Abnormality of the nervous system |
Gliosis |
Cerebral dysmyelination |
CNS demyelination |
Patchy demyelination of subcortical white matter |
Leukodystrophy |
Abnormal peripheral myelination |
Peripheral dysmyelination |
Delayed myelination |
Demyelinating peripheral neuropathy |
Axonal degeneration |
Peripheral axonal neuropathy |
Normal pressure hydrocephalus |
Ventriculomegaly |
Agenesis of corpus callosum |
Cerebral atrophy |
Diffuse cerebral atrophy |
Cerebellar hypoplasia |
Cerebellar atrophy |
Olivopontocerebellar atrophy |
Brain atrophy |
Global brain atrophy |
Neurodegeneration |
Ataxia |
Progressive gait ataxia |
Choreoathetosis |
Tremor |
Action tremor |
Intention tremor |
Babinski sign |
Abnormal auditory evoked potentials |
Decreased nerve conduction velocity |
Absent speech |
Atypical behavior |
Cognitive impairment |
Mental deterioration |
Progressive neurologic deterioration |
Intellectual disability |
Intellectual disability, profound |
Hyperreflexia |
Areflexia |
Hyporeflexia |
Gait disturbance |
Inability to walk |
Postural instability |
Stooped posture |
Developmental regression |
Neurodevelopmental delay |
Global developmental delay |
Peripheral neuropathy |
Polyneuropathy |
Sensorimotor neuropathy |
Seizure |
Bilateral tonic-clonic seizure |
Somatic sensory dysfunction |
| Disease(s) Associated with ERCC6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| cerebrooculofacioskeletal syndrome 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cockayne syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cockayne syndrome B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| De Sanctis-Cacchione syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| primary ovarian insufficiency 11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| UV-sensitive syndrome |
| Mouse Phenotypes | cochlear inner hair cell degeneration |
cochlear outer hair cell degeneration |
microgliosis |
astrocytosis |
|
| Availability | Mouse Genotype | ||||
| Ercc6tm1Gvh/Ercc6tm1Gvh | |||||
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 05/21/2024 MGI 6.23 |
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