Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
CCAAT/enhancer binding protein (C/EBP), delta
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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
phenotypes
Matching phenotypes Source
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Uridine-Cytidineuria
Elevated uridine in urine, Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis OMIM:300323
Pentosuria
Abnormal urine carbohydrate level, Abnormality of circulating enzyme level, Abnormal circulating ... ORPHA:2843
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Increas... ORPHA:94088
Hypouricemia, Renal, 1
Acute kidney injury, Hypouricemia, Uric acid nephrolithiasis, Renal tubular epithelial necrosis, ... OMIM:220150
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, H... ORPHA:3467
Xanthinuria, Type Ii
Hypouricemia, Renal insufficiency, Nephrolithiasis OMIM:603592
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Increased uri... ORPHA:411543
Phosphoribosylpyrophosphate Synthetase Superactivity
Uric acid nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria OMIM:300661
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria OMIM:616026
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight prote... ORPHA:3337
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts OMIM:609886
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia, Nephropathy, Renal tubular atrophy, Renal insufficiency, Nephritis OMIM:162000
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Glycosuria, Hypokal... OMIM:227810
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypour... ORPHA:411634
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Lesch-Nyhan Syndrome
Hyperuricosuria, Testicular atrophy, Nephrolithiasis, Hyperuricemia OMIM:300322
Molybdenum Cofactor Deficiency, Complementation Group A
Decreased urinary urate, Xanthinuria, Increased urinary thiosulfate, Increased urinary taurine, H... OMIM:252150
Lesch-Nyhan Syndrome
Renal insufficiency, Hematuria, Hyperuricemia ORPHA:510
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Hyperbilirubi... OMIM:229600
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthinuria, Xanthine nephrolithiasis, Increased urinary hypoxanthine, Hypouricemia, Increased ur... OMIM:252160
Cystinuria
Renal insufficiency, Nephrolithiasis, Hematuria, Hyperuricemia ORPHA:214
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Molybdenum Cofactor Deficiency, Complementation Group C
Hypouricemia, Increased urinary taurine OMIM:615501
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate ORPHA:760
Distal 16P11.2 Microdeletion Syndrome
Low anterior hairline, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disease, Renal agenes... ORPHA:261222
Azotemia, Familial
Azotemia OMIM:109160
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Glutaric aciduria, Increased level of 3-hydroxy-3-methylglutaric acid... OMIM:246450
Medullary cystic kidney disease 2
Multiple renal cysts, Hyperuricemia, Enuresis, Renal tubular atrophy, Renal corticomedullary cyst... OMIM:603860
Glycogen Storage Disease Vii
Increased total bilirubin, Exercise-induced myoglobinuria, Hyperuricemia, Cholelithiasis OMIM:232800
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Hyperuricem... OMIM:248250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Hyperuricemia, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Recurrent urinary tract infections, Increased circulating inosine concentration, In... OMIM:613179
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia OMIM:308950
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic... OMIM:613845
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia ORPHA:1187
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia ORPHA:364
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Burkitt Lymphoma
Abnormality of the ovary, Hyperuricemia ORPHA:543
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Exocrine pancreatic insufficiency, Decreased numbers of nephrons, Rena... OMIM:137920
Lipodystrophy, Familial Partial, Type 3
Hirsutism, Hyperuricemia, Polycystic ovaries, Hypertriglyceridemia, Decreased HDL cholesterol con... OMIM:604367
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Renal agenesis, Acute kidney injury, Horseshoe kidney, Hypothyroidism, Hyper... ORPHA:93111
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperuricemia, Hyperlipidemia ORPHA:35909
Alstrom Syndrome
Multinodular goiter, Hypothyroidism, Hyperuricemia, Hypertriglyceridemia, Tubulointerstitial neph... OMIM:203800
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Hyperphosphatemia, Hyperuricemia, Hydroxyprolinemia OMIM:239000
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hyperlipidemia, Decreased glo... OMIM:232200
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hyperlipidemia, Decreased glo... OMIM:232220
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Acute Adrenal Insufficiency
Primary adrenal insufficiency, Decreased circulating cortisol level, Hyponatremia, Hyperuricemia,... ORPHA:95409
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Episodic hyperhidrosis, Hyperuricemia, Chronic kidney disease,... ORPHA:469
Glycogen Storage Disease Ic
Hematuria, Focal segmental glomerulosclerosis, Chronic pancreatitis, Hyperuricemia, Decreased glo... OMIM:232240
Pparg-Related Familial Partial Lipodystrophy
Hyperuricemia, Polycystic ovaries, Hypertriglyceridemia, Pancreatitis, Generalized hirsutism ORPHA:79083
Xanthinuria, Type I
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Hydronephrosis OMIM:278300
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperuricemia OMIM:102730
Hirsutism, Skeletal Dysplasia, And Mental Retardation
Hirsutism, Hyperuricemia OMIM:142625
Addison Disease
Hypoparathyroidism, Primary testicular failure, Primary adrenal insufficiency, Decreased circulat... ORPHA:85138
Neuroleptic Malignant Syndrome
Hypocalcemia, Acute kidney injury, Hypernatremia, Hyponatremia, Elevated circulating creatine kin... ORPHA:94093
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia, Increased urinary glycerol ORPHA:348
Late-Onset Isolated Acth Deficiency
Graves disease, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating cortis... ORPHA:199299
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Renal insufficiency, Azotemia, Hematuria, Glomerulonephritis, Glomerular baseme... OMIM:104200
Beta-Ketothiolase Deficiency
Ketonuria, Hyperammonemia, Hyperuricemia ORPHA:134
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, 3-Methylglutaric aciduria, Hyperuricemia, Acute pancreatitis, Ketonuria ORPHA:20
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Tubulointerstitial fibrosis, Enlarged kidney, Thyroiditis, Hypothyroidism, ... ORPHA:79259
Cockayne Syndrome
Abnormal renal physiology, Neurogenic bladder, Cryptorchidism, Dry hair, Renal hypoplasia, Unilat... ORPHA:191
Familial Osteodysplasia, Anderson Type
Thick eyebrow, Hyperuricemia ORPHA:2769
Eisenmenger Syndrome
Renal insufficiency, Abnormal B-type natriuretic peptide level, Hyperuricemia, Elevated circulati... ORPHA:97214

Histopathology

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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