|
Symbol Name ID |
Surf1
surfeit gene 1 MGI:98443 |
| Darker colors indicate more annotations |
| Human Phenotypes | Decreased activity of mitochondrial respiratory chain |
Decreased activity of mitochondrial complex I |
Decreased activity of mitochondrial complex II |
Decreased activity of mitochondrial complex III |
Decreased activity of mitochondrial complex IV |
Decreased activity of the pyruvate dehydrogenase complex |
Hyperalaninemia |
Increased CSF lactate |
Abnormal circulating enzyme concentration or activity |
Decreased circulating biotinidase concentration |
Hypoglycemia |
Increased circulating lactate concentration |
Ketoacidosis |
Lactic acidosis |
Renal tubular acidosis |
Renal Fanconi syndrome |
Increased hepatocellular lipid droplets |
Increased intramyocellular lipid droplets |
Hyperphosphaturia |
Glycosuria |
3-Methylglutaconic aciduria |
Ethylmalonic aciduria |
Methylmalonic aciduria |
Proteinuria |
Aminoaciduria |
Generalized aminoaciduria |
Lacticaciduria |
Complex organic aciduria |
Exercise intolerance |
| Disease(s) Associated with SURF1 | |||||||||||||||||||||||||||||
| Charcot-Marie-Tooth disease type 4K | |||||||||||||||||||||||||||||
| Leigh disease | |||||||||||||||||||||||||||||
| mitochondrial complex IV deficiency nuclear type 1 |
| Mouse Phenotypes | decreased susceptibility to neuronal excitotoxicity |
abnormal enzyme/coenzyme activity |
|
| Availability | Mouse Genotype | ||
| Surf1tm2.1Zev/Surf1tm2.1Zev | |||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/16/2024 MGI 6.23 |
|
|
|
||
Analysis Tools