Symbol
Name
ID

Mpv17
MpV17 mitochondrial inner membrane protein
MGI:97138

Phenotype annotations related to homeostasis/metabolism

*	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

Mpv17^em1(IMPC)J/Mpv17^em1(IMPC)J

Contributing Projects: 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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