|
Symbol Name ID |
Mthfr
methylenetetrahydrofolate reductase MGI:106639 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Maternal diabetes |
Increased circulating IgA level |
Increased circulating IgE level |
Increased circulating IgG level |
Decreased circulating antibody level |
Paraproteinemia |
Pedal edema |
Abnormality of metabolism/homeostasis |
Hypercalcemia |
Decreased level of 1,5 anhydroglucitol in serum |
Hyperbilirubinemia |
Unconjugated hyperbilirubinemia |
Increased LDL cholesterol concentration |
Hypercholesterolemia |
Hypertriglyceridemia |
Elevated circulating creatinine concentration |
Elevated circulating C-reactive protein concentration |
Elevated circulating amyloid A concentration |
Hyperproteinemia |
Elevated circulating hepatic transaminase concentration |
Abnormal circulating lactate dehydrogenase concentration |
Increased circulating lactate dehydrogenase concentration |
Elevated circulating alkaline phosphatase concentration |
Reduced leukocyte alkaline phosphatase |
Elevated erythrocyte sedimentation rate |
Hyperglycemia |
Hypoglycemia |
Hypoglycemic seizures |
Neonatal hypoglycemia |
Glucose intolerance |
Diabetes mellitus |
Type II diabetes mellitus |
Impaired glucose tolerance |
Insulin resistance |
Ketoacidosis |
Joint swelling |
Pleural effusion |
Fever |
Recurrent fever |
Abnormality of vitamin B12 metabolism |
Hepatic steatosis |
Hematuria |
Proteinuria |
Amyloidosis |
Renal amyloidosis |
Ascites |
Abnormal circulating adrenocorticotropin concentration |
Decreased circulating ACTH concentration |
Decreased circulating follicle stimulating hormone concentration |
Decreased circulating luteinizing hormone level |
Decreased circulating free T3 |
Increased circulating free T3 |
Decreased circulating free T4 concentration |
Increased circulating free T4 concentration |
Reduced circulating growth hormone concentration |
Decreased thyroid-stimulating hormone level |
| Disease(s) Associated with MTHFR | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| chronic myeloid leukemia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| coronary artery disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| dextro-looped transposition of the great arteries | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Down syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| factor VIII deficiency | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| familial mediterranean fever | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| graft-versus-host disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Graves' disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| hypopituitarism | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| metabolic dysfunction-associated steatotic liver disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| multiple myeloma | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| neural tube defect | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| osteosarcoma | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| pancreatic cancer | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| rheumatoid arthritis | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| sickle cell anemia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| thrombocytopenia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| type 1 diabetes mellitus | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| type 2 diabetes mellitus |
| Mouse Phenotypes | homeostasis/metabolism phenotype |
increased circulating homocysteine level |
abnormal blood homeostasis |
abnormal lipid homeostasis |
|
| Availability | Mouse Genotype | ||||
| Mthfrtm1Rzn/Mthfrtm1Rzn | * | ||||
| Mthfrtm1Rzn/Mthfr+ | |||||
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 04/09/2024 MGI 6.23 |
|
|
|
||
Analysis Tools