Symbol Name ID |
Mpv17
MpV17 mitochondrial inner membrane protein MGI:97138 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Decreased activity of mitochondrial complex I |
Decreased activity of mitochondrial complex III |
Decreased activity of mitochondrial complex IV |
Mildly elevated creatine kinase |
Increased CSF lactate |
Elevated circulating hepatic transaminase concentration |
Elevated circulating alanine aminotransferase concentration |
Elevated circulating aspartate aminotransferase concentration |
Elevated gamma-glutamyltransferase level |
Hypoglycemia |
Recurrent hypoglycemia |
Lactic acidosis |
Metabolic acidosis |
Hepatic steatosis |
Macrovesicular hepatic steatosis |
Microvesicular hepatic steatosis |
Ascites |
Corneal scarring |
Disease(s) Associated with MPV17 | ||||||||||||||||||
Charcot-Marie-Tooth disease type 2EE | ||||||||||||||||||
mitochondrial DNA depletion syndrome 6 |
Mouse Phenotypes | homeostasis/metabolism phenotype |
increased circulating creatinine level |
abnormal blood homeostasis |
increased blood urea nitrogen level |
decreased circulating glucose level |
increased circulating lactate level |
increased circulating cholesterol level |
increased circulating alanine transaminase level |
increased circulating aspartate transaminase level |
increased circulating creatine kinase level |
decreased circulating serum albumin level |
increased urine sodium level |
decreased urine osmolality |
increased urine protein level |
albuminuria |
|
Availability | Mouse Genotype | |||||||||||||||
Mpv17/Mpv17 | * | |||||||||||||||
Mpv17em1(IMPC)J/Mpv17em1(IMPC)J |
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 08/02/2024 MGI 6.24 |
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