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Symbol
Name
ID
Clcn5
chloride channel, voltage-sensitive 5
MGI:99486
Phenotype annotations related to renal/urinary system
*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
Beta 2-microglobulinuria
Proteinuria
Low-molecular-weight proteinuria
Aminoaciduria
Hyposthenuria
Glomerular sclerosis
Focal segmental glomerulosclerosis
Renal tubular atrophy
Tubulointerstitial fibrosis
Nephrocalcinosis
Nephrolithiasis
Renal insufficiency
Chronic kidney disease
Stage 5 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
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 kidney corticomedullary boundary morphology
nephrocalcinosis
abnormal renal transport
polyuria
Availability Mouse Genotype
Clcn5tm5.1Tjj/Clcn5+ *
Clcn5tm1Gug/Y *
Clcn5tm1Tjj/Y *
Clcn5tm2.1Tjj/Y

Contributing Projects:
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
The Jackson Laboratory