Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

solute carrier family 26, member 6
CFEX,  B930010B04Rik,  Pat1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Slc26a6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc26a6 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Danubian Endemic Familial Nephropathy
Nephropathy OMIM:124100
Abnormality of urine homeostasis OMIM:260800
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... OMIM:137950
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits ORPHA:69063
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
C3 Glomerulopathy 3
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis OMIM:614809
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... OMIM:601894
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... OMIM:603965
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Abnormality of exocrine pancreas physiology OMIM:609812
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:618176
Hinman Syndrome
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Bowel incont... ORPHA:84085
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... OMIM:618594
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency OMIM:161900
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros... OMIM:256370
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia OMIM:601820
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617609
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... OMIM:614131
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... OMIM:616892
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:615573
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology OMIM:609886
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Renal insufficiency, Nephropathy OMIM:162000
Familial Renal Glucosuria
Recurrent urinary tract infections, Renal tubular dysfunction, Glycosuria, Nephropathy ORPHA:69076
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Vomiting, Nausea, Abnormal renal physiology, Hematuri... ORPHA:94088
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse m... OMIM:610725
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stage 5 chronic kidne... OMIM:619155
Primary Hyperoxaluria Type 2
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... ORPHA:93599
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Renal insufficiency, Acute kidney injury, Uric acid nephrolithiasis, Crystalluri... ORPHA:411536
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Stage 5 chronic kidney disease, Vesicoureteral reflux OMIM:610805
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Ochoa Syndrome
Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, V... ORPHA:2704
Xanthinuria, Type Ii
Renal insufficiency, Nephrolithiasis OMIM:603592
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Dysphagia, Vomiting, Abnormal renal physiology, Hematur... OMIM:308940
Nephrolithiasis, Calcium Oxalate
Hyperoxaluria, Acute kidney injury, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:604387
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria OMIM:123550
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis OMIM:167800
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Abnormality of pancreas physiology, Extrahepati... ORPHA:276152


Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc26a6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc26a6.

No publications found that use IMPC mice or data for Slc26a6.

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