|
Symbol Name ID |
Mpv17
MpV17 mitochondrial inner membrane protein MGI:97138 |
| Darker colors indicate more annotations |
| Human Phenotypes | Increased CSF lactate |
Painless fractures due to injury |
Decreased number of peripheral myelinated nerve fibers |
Peripheral axonal neuropathy |
Diffuse leukoencephalopathy |
Ataxia |
Decreased distal sensory nerve action potential |
Areflexia |
Hyporeflexia |
Dystonia |
Gait disturbance |
Broad-based gait |
Loss of ambulation |
Global developmental delay |
Motor delay |
Peripheral neuropathy |
Sensorimotor neuropathy |
Seizure |
Pain insensitivity |
Impaired distal tactile sensation |
Distal sensory impairment |
| Disease(s) Associated with MPV17 | |||||||||||||||||||||
| Charcot-Marie-Tooth disease type 2EE | |||||||||||||||||||||
| mitochondrial DNA depletion syndrome 6 |
| Mouse Phenotypes | cochlear outer hair cell degeneration |
cochlear ganglion degeneration |
cochlear ganglion hypoplasia |
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| Availability | Mouse Genotype | |||
| Mpv17/Mpv17 | ||||
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 04/23/2024 MGI 6.23 |
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