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Gene: Cebpd MGI:103573

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 urinary cytidine, Elevated urinary uridine level OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Xanthinuria, Type Ii
Hypouricemia, Renal insufficiency, Increased urinary hypoxanthine, Nephrolithiasis, Increased cir... OMIM:603592
Hypouricemia, Renal, 1
Proteinuria, Acute kidney injury, Uric acid nephrolithiasis, Hypouricemia, Hyperuricosuria, Renal... OMIM:220150
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal physiology, Decreased glomerular filtration rate, Chronic kid... ORPHA:94088
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Nephrolithiasis OMIM:300323
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Hyperuricemia, Uric acid nephrolithiasis, Hyperuricosuria, Renal insufficien... ORPHA:411536
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Renal insufficien... ORPHA:79233
Hereditary Xanthinuria
Recurrent urinary tract infections, Hydronephrosis, Acute kidney injury, Uric acid nephrolithiasi... ORPHA:3467
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Hyperuricemia, Uric acid nephrolithiasis, Hyperuricosuria, Renal insufficien... ORPHA:411543
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Primary Fanconi Renotubular Syndrome
Proximal renal tubular acidosis, Hypophosphatemia, Stage 5 chronic kidney disease, Chronic kidney... ORPHA:3337
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia OMIM:609886
Dent Disease
Renal hypophosphatemia, Renal tubular atrophy, Proteinuria, Nephrocalcinosis, Chronic kidney dise... ORPHA:1652
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Proteinuria, Hypophosphatemia, Nephrocalcinosis, Glycosuria, Hypouricemia, Aminoaciduria, Hyperph... OMIM:616026
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal tubular atrophy, Hyperuricemia, Chronic kidney disease, Focal segmental glomer... OMIM:613092
Juvenile Nephropathic Cystinosis
Microscopic hematuria, Proteinuria, Hypophosphatemia, Stage 5 chronic kidney disease, Chronic kid... ORPHA:411634
Molybdenum Cofactor Deficiency, Complementation Group A
Increased urinary sulfite, Hypouricemia, Elevated urinary S-sulfocysteine level, Increased urinar... OMIM:252150
Fanconi-Bickel Syndrome
Proteinuria, Hypophosphatemia, Glycosuria, Hypouricemia, Beta 2-microglobulinuria, Hypergalactose... OMIM:227810
Glycogen Storage Disease V
Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Hyperuricemia, Decreased glomerular filtration rate, Renal insufficiency, ... OMIM:162000
Lesch-Nyhan Syndrome
Testicular atrophy, Nephrocalcinosis, Hyperuricemia, Hyperuricosuria, Nephrolithiasis OMIM:300322
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Hyperuricemia ORPHA:510
Molybdenum Cofactor Deficiency, Complementation Group C
Hypouricemia, Hypertaurinemia, Hypocystinemia, Increased urinary taurine OMIM:615501
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Molybdenum Cofactor Deficiency, Complementation Group B
Increased urinary sulfite, Hypouricemia, Increased urinary hypoxanthine, Xanthine nephrolithiasis... OMIM:252160
Nephrotic Syndrome, Type 20
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... OMIM:301028
Nephrotic Syndrome, Type 18
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... OMIM:618178
Focal Segmental Glomerulosclerosis 8
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Proximal Renal Tubular Acidosis
Nephrocalcinosis, Hypernatriuria, Glycosuria, Hyperuricosuria, Bicarbonaturia, Hypercalciuria, Ne... ORPHA:47159
Phosphoribosylpyrophosphate Synthetase Superactivity
Cryptorchidism, Hyperuricemia, Uric acid nephrolithiasis, Hyperuricosuria, Renal insufficiency, U... OMIM:300661
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate ORPHA:760
Fructose Intolerance, Hereditary
Proximal renal tubular acidosis, Hypophosphatemia, Hyperuricemia, Transient aminoaciduria, Glycos... OMIM:229600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Chronic kidney disease, Renal cyst, Nephropathy, Focal segmental glomerulosclerosi... OMIM:617056
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia ORPHA:214
Wilson Disease
Proteinuria, Glycosuria, Hypouricemia, Hypoparathyroidism, Increased urinary copper concentration... OMIM:277900
Distal 16P11.2 Microdeletion Syndrome
Proteinuria, Abnormality of the kidney, Hyperuricemia, Chronic kidney disease, Low anterior hairl... ORPHA:261222
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Hyperammonemia, Hyperuricemia, Increased level of 3-hy... OMIM:246450
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Hypocitraturia, Nephrocalcinosis, Hyperuricemia, Renal magnes... OMIM:248250
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Hyperuricemia, Tubulointerstitial nephritis, Stage 5 chronic kid... OMIM:603860
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Glycosuria, Beta 2-microglobulinu... OMIM:308990
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Increased circulating inosine concentration, Recurrent urinary tract infections, In... OMIM:613179
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Impaired renal concentrating ability, Hyperuricemia, Abnormal renal insterst... OMIM:614227
Glycogen Storage Disease Vii
Hyperuricemia, Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration... OMIM:232800
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Hyperuricemia, Chronic kidney disease, Increased blood urea nitrogen, Renal salt was... OMIM:613845
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Hyperuricemia, Decreased glomerular filtration rate, Tubular basement memb... OMIM:174000
Glucoglycinuria
Glycosuria, Hyperglycinuria OMIM:138070
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Idiopathic Hypercalciuria
Calcium oxalate nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsor... ORPHA:2197
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Medullary Sponge Kidney
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria ORPHA:1309
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia ORPHA:1187
Interstitial Nephritis, Karyomegalic
Renal interstitial fibrosis, Proteinuria, Renal tubular cyst, Stage 5 chronic kidney disease, Tub... OMIM:614817
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormal renal physiology, Nephrocalcinosis, Hematuria, Dysuria,... ORPHA:93600
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia OMIM:308950
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Abnormal renal morphology, Exocrine pancreatic insufficiency, Abnormality ... OMIM:137920
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Hyperuricemia, Renal cell carcinoma, Horseshoe kidney, Renal... ORPHA:93111
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hirsutism, Hyperuricemia, Hypothyroidism ORPHA:77296
Burkitt Lymphoma
Abnormality of the ovary, Hyperuricemia ORPHA:543
Lipodystrophy, Familial Partial, Type 3
Hyperuricemia, Polycystic ovaries, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... OMIM:604367
Alstrom Syndrome
Hyperuricemia, Tubulointerstitial nephritis, Multinodular goiter, Renal insufficiency, Alopecia, ... OMIM:203800
Paget Disease Of Bone 5, Juvenile-Onset
Hyperuricemia, Hydroxyprolinemia, Hyperphosphatemia, Increased urine deoxypyridinoline level, Hyp... OMIM:239000
Glycogen Storage Disease Ib
Proteinuria, Hyperuricemia, Enlarged kidney, Decreased glomerular filtration rate, Pancreatitis, ... OMIM:232220
Glycogen Storage Disease Ixb
Hyperuricemia OMIM:261750
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperlipidemia, Hyperuricemia ORPHA:35909
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Glycogen Storage Disease Ia
Proteinuria, Hyperuricemia, Enlarged kidney, Decreased glomerular filtration rate, Pancreatitis, ... OMIM:232200
Acute Adrenal Insufficiency
Hypercalcemia, Increased circulating renin level, Hyperuricemia, Sparse axillary hair, Decreased ... ORPHA:95409
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Xanthinuria OMIM:278300
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Chronic kidney disease, Renal insufficiency, Hypermagnesemia, Ep... ORPHA:469
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia, Increased urinary glycerol ORPHA:348
Pparg-Related Familial Partial Lipodystrophy
Hyperuricemia, Polycystic ovaries, Pancreatitis, Hypertriglyceridemia, Generalized hirsutism ORPHA:79083
Neuroleptic Malignant Syndrome
Proteinuria, Acute kidney injury, Hyperuricemia, Urinary incontinence, Hyperphosphatemia, Elevate... ORPHA:94093
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Glycogen Storage Disease Ic
Chronic pancreatitis, Proteinuria, Hyperuricemia, Decreased glomerular filtration rate, Renal ins... OMIM:232240
Alport Syndrome 3, Autosomal Dominant
Microscopic hematuria, Proteinuria, Glomerulonephritis, Hypophosphatemia, Nephrocalcinosis, Stage... OMIM:104200
Addison Disease
Hypercalcemia, Increased circulating renin level, Hyperuricemia, Hashimoto thyroiditis, Sparse ax... ORPHA:85138
Beta-Ketothiolase Deficiency
Ketonuria, Hyperammonemia, Hyperuricemia ORPHA:134
Late-Onset Isolated Acth Deficiency
Graves disease, Hypercalcemia, Adrenocorticotropin deficient adrenal insufficiency, Hyperuricemia... ORPHA:199299
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, Hyperuricemia, Acute pancreatitis, Ketonuria, 3-Methylglutaric aciduria ORPHA:20
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Hyperuricemia, Nephrocalcinosis, Enlarged kidney, Stage 5 chronic kidney disease, Pa... ORPHA:79259
Gaisböck Syndrome
Increased circulating renin level, Hyperuricemia, Nephrocalcinosis, Hypernatriuria, Hyperproteine... ORPHA:90041
Cockayne Syndrome
Proteinuria, Cryptorchidism, Abnormal renal physiology, Hyperuricemia, Neurogenic bladder, Fine h... ORPHA:191
Familial Osteodysplasia, Anderson Type
Thick eyebrow, Hyperuricemia ORPHA:2769
Eisenmenger Syndrome
Renal insufficiency, Elevated circulating C-reactive protein concentration, Abnormal B-type natri... 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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