Symbol Name ID |
Ercc2
excision repair cross-complementing rodent repair deficiency, complementation group 2 MGI:95413 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Microcephaly |
Anorexia |
Photophobia |
Spasticity |
Cerebral cortical atrophy |
Spinal cord compression |
Ataxia |
Abnormality of extrapyramidal motor function |
Choreoathetosis |
EEG abnormality |
Delayed speech and language development |
Cognitive impairment |
Mental deterioration |
Intellectual disability |
Intellectual disability, progressive |
Reduced tendon reflexes |
Hyporeflexia |
Developmental regression |
Global developmental delay |
Peripheral neuropathy |
Seizure |
Paresthesia |
Disease(s) Associated with ERCC2 | ||||||||||||||||||||||
cerebrooculofacioskeletal syndrome 2 | ||||||||||||||||||||||
multiple myeloma | ||||||||||||||||||||||
pancreatic cancer | ||||||||||||||||||||||
photosensitive trichothiodystrophy 1 | ||||||||||||||||||||||
xeroderma pigmentosum | ||||||||||||||||||||||
xeroderma pigmentosum group D |
Mouse Phenotypes | nervous system phenotype |
microgliosis |
astrocytosis |
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Availability | Mouse Genotype | |||
Ercc2tm3Jhjh/Ercc2tm3Jhjh | * |
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 05/14/2024 MGI 6.23 |
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