Symbol Name ID |
Clcn5
chloride channel, voltage-sensitive 5 MGI:99486 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Hyperphosphaturia |
Renal phosphate wasting |
Hypercalciuria |
Hematuria |
Microscopic hematuria |
Hyperuricosuria |
Glycosuria |
Aminoaciduria |
Beta 2-microglobulinuria |
Proteinuria |
Low-molecular-weight proteinuria |
Hyposthenuria |
Glomerular sclerosis |
Focal segmental glomerulosclerosis |
Renal tubular atrophy |
Tubulointerstitial fibrosis |
Nephrocalcinosis |
Nephrolithiasis |
Renal insufficiency |
Chronic kidney disease |
Proximal tubulopathy |
Non-acidotic proximal tubulopathy |
Disease(s) Associated with CLCN5 | ||||||||||||||||||||||
Dent disease | ||||||||||||||||||||||
low molecular weight proteinuria with hypercalciuric nephrocalcinosis | ||||||||||||||||||||||
X-linked nephrolithiasis type I | ||||||||||||||||||||||
X-linked recessive hypophosphatemic rickets |
Mouse Phenotypes | renal/urinary system phenotype |
hydroxyprolinuria |
cystinuria |
hyperglutaminuria |
hyperthreoninuria |
decreased urine creatinine level |
aminoaciduria |
increased urine glucose level |
increased urine calcium level |
abnormal renal protein reabsorption |
increased urine insulin level |
decreased urine pH |
increased urine phosphate level |
increased urine protein level |
increased urine beta2-microglobulin level |
abnormal kidney corticomedullary boundary morphology |
nephrocalcinosis |
abnormal renal transport |
polyuria |
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Availability | Mouse Genotype | |||||||||||||||||||
Clcn5tm5.1Tjj/Clcn5+ | * | |||||||||||||||||||
Clcn5tm1Gug/Y | * | |||||||||||||||||||
Clcn5tm1Tjj/Y | * | |||||||||||||||||||
Clcn5tm2.1Tjj/Y |
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 09/03/2024 MGI 6.24 |
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