|
Symbol Name ID |
Hfe
homeostatic iron regulator MGI:109191 |
| * | Aspects of the system are reported to show a normal phenotype. |
| ! | Indicates phenotype varies with strain background. |
| Darker colors indicate more annotations |
| Human Phenotypes | Increased circulating IgA level |
Increased circulating IgG level |
Decreased circulating antibody level |
Paraproteinemia |
Abnormal erythrocyte enzyme concentration or activity |
Hypercalcemia |
Abnormality of iron homeostasis |
Increased circulating iron concentration |
Elevated transferrin saturation |
Elevated circulating creatinine concentration |
Abnormal circulating porphyrin concentration |
Elevated circulating C-reactive protein concentration |
Increased circulating ferritin concentration |
Decreased circulating hepcidin concentration |
Hyperproteinemia |
Abnormal circulating enzyme concentration or activity |
Elevated circulating hepatic transaminase concentration |
Reduced uroporphyrinogen decarboxylase activity |
Elevated erythrocyte sedimentation rate |
Decreased resting energy expenditure |
Hyperglycemia |
Hypoglycemia |
Glucose intolerance |
Diabetes mellitus |
Type II diabetes mellitus |
Insulin resistance |
Elevated sweat chloride |
Dehydration |
Nonimmune hydrops fetalis |
Joint swelling |
Pleural effusion |
Abnormality of temperature regulation |
Fever |
Abnormality of vitamin B12 metabolism |
Increased fecal porphyrin |
Elevated hepatic iron concentration |
Hepatic steatosis |
Hypercalciuria |
Increased urinary porphobilinogen |
Porphyrinuria |
Amyloidosis |
Ascites |
Decreased serum testosterone concentration |
Corneal scarring |
Scarring |
| Disease(s) Associated with HFE | |||||||||||||||||||||||||||||||||||||||||||||
| beta thalassemia | |||||||||||||||||||||||||||||||||||||||||||||
| cystic fibrosis | |||||||||||||||||||||||||||||||||||||||||||||
| hemochromatosis | |||||||||||||||||||||||||||||||||||||||||||||
| hemochromatosis type 1 | |||||||||||||||||||||||||||||||||||||||||||||
| metabolic dysfunction-associated steatotic liver disease | |||||||||||||||||||||||||||||||||||||||||||||
| multiple myeloma | |||||||||||||||||||||||||||||||||||||||||||||
| myelofibrosis | |||||||||||||||||||||||||||||||||||||||||||||
| obesity | |||||||||||||||||||||||||||||||||||||||||||||
| porphyria cutanea tarda | |||||||||||||||||||||||||||||||||||||||||||||
| rheumatoid arthritis | |||||||||||||||||||||||||||||||||||||||||||||
| type 2 diabetes mellitus |
| Mouse Phenotypes | homeostasis/metabolism phenotype |
decreased spleen iron level |
increased spleen iron level |
decreased circulating iron level |
increased circulating iron level |
abnormal iron homeostasis |
abnormal iron level |
abnormal brain iron level |
decreased liver iron level |
increased liver iron level |
hemochromatosis |
decreased brain cholesterol level |
|
| Availability | Mouse Genotype | ||||||||||||
| Hfetm1.1Jrco/Hfetm1.1Jrco | |||||||||||||
| Hfetm1.1Nca/Hfetm1.1Nca | ! | ||||||||||||
| Hfetm1.1Wsr/Hfetm1.1Wsr | |||||||||||||
| Hfetm1Gfn/Hfetm1Gfn | |||||||||||||
| Hfetm1Sly/Hfetm1Sly | |||||||||||||
| Hfetm2Nca/Hfetm2Nca | ! | ||||||||||||
| Hfetm2Nca/Hfetm2Nca Tg(Ttr-Hfe)1Nca/0 |
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| Hfetm2Sly/Hfetm2Sly | |||||||||||||
| Hfetm3Sly/Hfetm3Sly | |||||||||||||
| Hfetm1Sly/Hfetm2Sly | |||||||||||||
| Hfetm2Nca/Hfe+ | |||||||||||||
| Hfetm2Sly/Hfetm3Sly | |||||||||||||
| Hfetm1Wsr/Hfetm1Wsr Tg(Alb1-cre)7Gsc/? (conditional) |
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| Hfetm1Wsr/Hfetm1Wsr Lyz2tm1(cre)Ifo/? (conditional) |
* | ||||||||||||
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 04/16/2024 MGI 6.23 |
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