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Symbol Name ID |
Ercc6
excision repair cross-complementing rodent repair deficiency, complementation group 6 MGI:1100494 |
| Darker colors indicate more annotations |
| Human Phenotypes | Abnormality of the ear |
Abnormal pinna morphology |
Macrotia |
Sensorineural hearing impairment |
High-frequency sensorineural hearing impairment |
Progressive sensorineural hearing impairment |
Hearing impairment |
| Disease(s) Associated with ERCC6 | |||||||
| cerebrooculofacioskeletal syndrome 1 | |||||||
| Cockayne syndrome | |||||||
| Cockayne syndrome B | |||||||
| De Sanctis-Cacchione syndrome |
| Mouse Phenotypes | cochlear inner hair cell degeneration |
cochlear outer hair cell degeneration |
Deiters cell degeneration |
pillar cell degeneration |
degeneration of organ of Corti supporting cells |
increased or absent threshold for auditory brainstem response |
decreased distortion product otoacoustic emission amplitude |
impaired hearing |
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| 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 04/16/2024 MGI 6.23 |
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