Symbol Name ID |
Clcn5
chloride channel, voltage-sensitive 5 MGI:99486 |
Darker colors indicate more annotations |
Human Phenotypes | Hypophosphatemia |
Hypophosphatemic rickets |
Renal hypophosphatemia |
Elevated circulating creatine kinase concentration |
Elevated circulating alanine aminotransferase concentration |
Elevated circulating aspartate aminotransferase concentration |
Increased circulating lactate dehydrogenase concentration |
High serum calcitriol |
Hyperphosphaturia |
Renal phosphate wasting |
Hypercalciuria |
Hematuria |
Microscopic hematuria |
Hyperuricosuria |
Glycosuria |
Beta 2-microglobulinuria |
Proteinuria |
Low-molecular-weight proteinuria |
Aminoaciduria |
Hyposthenuria |
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 | hyperglutaminuria |
hydroxyprolinuria |
hyperthreoninuria |
decreased urine creatinine level |
aminoaciduria |
cystinuria |
increased urine glucose level |
abnormal renal protein reabsorption |
increased urine calcium level |
increased urine insulin level |
decreased urine pH |
increased urine phosphate level |
increased urine protein level |
increased urine beta2-microglobulin level |
abnormal metabolism |
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Availability | Mouse Genotype | |||||||||||||||
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 04/16/2024 MGI 6.23 |
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