Not currently registered for phenotyping at IMPC

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

Gene Summary

CCAAT/enhancer binding protein (C/EBP), delta

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 Cebpd 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 Cebpd by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Abnormality of urine homeostasis OMIM:260800
Elevated uridine in urine, Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Stage 4 chronic kidney disease, Hyperuricemia, Crystalluria... ORPHA:411536
Hyperuricemia, Hprt-Related
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormality o... ORPHA:2843
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Hematuria, Acute ki... ORPHA:94088
Hypouricemia, Renal, 1
Acute kidney injury, Hypouricemia, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Hereditary Xanthinuria
Hematuria, Acute kidney injury, Xanthinuria, Hydronephrosis, Decreased urinary urate, Hypouricemi... ORPHA:3467
Xanthinuria, Type Ii
Hypouricemia, Nephrolithiasis, Renal insufficiency OMIM:603592
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Hyperuricemia, Crystalluria, Renal insufficiency, Uric acid... ORPHA:411543
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Renal insufficiency, Uric acid nephrolithiasis, Hyperuricosuria OMIM:300661
Hypouricemia, Renal, 2
Nephrolithiasis, Hypouricemia OMIM:612076
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hypokalemia, Hyperuricosuria, Hypercalciuria, Bicarbonatur... ORPHA:3337
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Hyperuricemia, Multiple glomerular cysts, Renal insufficiency OMIM:609886
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Nephrocalcinosis, Proteinuria, Hyperphosphaturia, Hypouricemia, Aminoaciduria, Hypoph... OMIM:616026
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Hyperuricemia, Tubulointerstitial fibrosis... OMIM:613092
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Renal tubular dysfunction, Hyperphosphaturia,... OMIM:227810
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Juvenile Nephropathic Cystinosis
Glycosuria, Hypothyroidism, Hypokalemia, Renal Fanconi syndrome, Elevated circulating creatinine ... ORPHA:411634
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Acute kidney injury, Dysuria, Macroscopic hematuri... ORPHA:79233
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Hyperuricemia, Renal tubular atrophy, Nephritis, Nephropath... OMIM:162000
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Lesch-Nyhan Syndrome
Hyperuricosuria, Hyperuricemia, Nephrolithiasis, Testicular atrophy OMIM:300322
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthinuria, Increased urinary sulfite, Increased urinary thiosulfate, Decreased urinary urate, D... OMIM:252150
Lesch-Nyhan Syndrome
Hyperuricemia, Hematuria, Renal insufficiency ORPHA:510
Proximal Renal Tubular Acidosis
Glycosuria, Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hypercalciuria, Bica... ORPHA:47159
Molybdenum Cofactor Deficiency, Complementation Group C
Hypertaurinemia, Hypocystinemia, Increased urinary taurine, Hypouricemia OMIM:615501
Fructose Intolerance, Hereditary
Glycosuria, Bicarbonaturia, Hyperuricosuria, Proximal tubulopathy, Hyperphosphaturia, Hyperuricem... OMIM:229600
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthinuria, Increased urinary taurine, Hypouricemia, Increased urinary hypoxanthine, Xanthine ne... OMIM:252160
Hyperuricemia, Nephrolithiasis, Hematuria, Renal insufficiency ORPHA:214
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Hyperuricemia, Lo... ORPHA:261222
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Hypouricemia ORPHA:760
Azotemia, Familial
Azotemia OMIM:109160
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Decreased plasma carnitine, Hyperuricemia, Increased level of hippuric... OMIM:246450
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Enuresis, Tubulointerstitial nephritis, Hyperuricemia, Rena... OMIM:603860
Glycogen Storage Disease Vii
Cholelithiasis, Increased total bilirubin, Exercise-induced myoglobinuria, Hyperuricemia OMIM:232800
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Hyperuricemia, Nephropathy, Focal segmental glomerulosclerosis OMIM:617056
Hypomagnesemia 3, Renal
Renal tubular acidosis, Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Purine Nucleoside Phosphorylase Deficiency
Increased circulating guanosine concentration, Recurrent urinary tract infections, Increased circ... OMIM:613179
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... OMIM:174000
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia OMIM:308950
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Hyperuricemia, H... OMIM:613845
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Renal insufficiency ORPHA:3222
Glycosuria, Hyperglycinuria OMIM:138070
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia ORPHA:1187
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Medullary Sponge Kidney
Hypercalciuria, Nephrolithiasis, Hematuria, Distal renal tubular acidosis ORPHA:1309
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Hematuria, Dysuria, Abnormality of urine homeostasis, Abnormal renal physiology... ORPHA:93600
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Burkitt Lymphoma
Abnormality of the ovary, Hyperuricemia ORPHA:543
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Hirsutism, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Exocrine pancreatic insufficiency, Multiple gl... OMIM:137920
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries, Hyperuricemia, Hypertriglyceridemia, Hirsutism, Decreased HDL cholesterol con... OMIM:604367
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Abnormality of endocrine pancreas physiology, Hypothyroidism, Horseshoe kidney, R... ORPHA:93111
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hematuria, Hyperuricemia ORPHA:35909
Alstrom Syndrome
Hypothyroidism, Tubulointerstitial nephritis, Alopecia, Hyperuricemia, Nephritis, Hypertriglyceri... OMIM:203800
Paget Disease Of Bone 5, Juvenile-Onset
Hypercalciuria, Hydroxyprolinuria, Hyperuricemia, Hyperphosphatemia, Hydroxyprolinemia, Increased... OMIM:239000
Glycogen Storage Disease Ia
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232200
Glycogen Storage Disease Ib
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232220
Acute Adrenal Insufficiency
Primary adrenal insufficiency, Hyponatremia, Decreased urinary potassium, Hypercalcemia, Increase... ORPHA:95409
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Xanthinuria, Type I
Pyelonephritis, Xanthinuria, Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis OMIM:278300
Hereditary Fructose Intolerance
Chronic kidney disease, Hyperuricemia, Episodic hyperhidrosis, Renal insufficiency, Hypermagnesem... ORPHA:469
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Polycystic ovaries, Hyperuricemia, Hypertriglyceridemia, Pancreatitis ORPHA:79083
Glycogen Storage Disease Ic
Hyperlipidemia, Hematuria, Proteinuria, Decreased glomerular filtration rate, Chronic pancreatiti... OMIM:232240
Neuroleptic Malignant Syndrome
Hypernatremia, Hyponatremia, Acute kidney injury, Proteinuria, Hyperkalemia, Hypocalcemia, Myoglo... ORPHA:94093
Adenosine deaminase, elevated, hemolytic anemia due to
Hyperuricemia OMIM:102730
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Neonatal hyperbilirubinemia, Increased urinary glycerol, Hyperuricemia ORPHA:348
Hirsutism, Skeletal Dysplasia, And Mental Retardation
Hirsutism, Hyperuricemia OMIM:142625
Addison Disease
Primary adrenal insufficiency, Hyponatremia, Decreased urinary potassium, Hypercalcemia, Increase... ORPHA:85138
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hashimoto thyroiditis, Graves disease, Decreased circulating cortiso... ORPHA:199299
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Beta-Ketothiolase Deficiency
Ketonuria, Hyperammonemia, Hyperuricemia ORPHA:134
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, 3-Methylglutaric aciduria, Hyperuricemia, Ketonuria, Hyperammonemia ORPHA:20
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Nephrocalcinosis, Hypothyroidism, Nephrolithiasis, Polycystic ovaries, Proteinur... ORPHA:79259
Gaisböck Syndrome
Nephrocalcinosis, Increased circulating renin level, Hypercholesterolemia, Hyperuricemia, Hyperna... ORPHA:90041
Cockayne Syndrome
Unilateral renal agenesis, Nephrotic syndrome, Proteinuria, Cryptorchidism, Renal hypoplasia, Fin... ORPHA:191
Familial Osteodysplasia, Anderson Type
Thick eyebrow, Hyperuricemia ORPHA:2769
Eisenmenger Syndrome
Hyperuricemia, Abnormal B-type natriuretic peptide level, Elevated circulating C-reactive protein... ORPHA:97214


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 Cebpd

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 Cebpd.

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

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