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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 delta
Synonyms:
N/A

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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 uridine level, Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... ORPHA:411536
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... ORPHA:79233
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... ORPHA:3467
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Hyperuricosuria, Hyperuricemia, Uric acid nephrolithiasis, Acu... ORPHA:411543
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, Aminoaciduria, ... OMIM:616026
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Juvenile Nephropathic Cystinosis
Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney... ORPHA:411634
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione... OMIM:252150
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri... OMIM:227810
Glycogen Storage Disease V
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:232600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... OMIM:162000
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Testicular atrophy OMIM:300322
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Hyperuricemia ORPHA:510
Molybdenum Cofactor Deficiency, Complementation Group C
Increased urinary taurine, Hypocystinemia, Hypouricemia, Hypertaurinemia OMIM:615501
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Increased u... OMIM:252160
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, Hyperuricemia, S... OMIM:300661
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Hypouricemia ORPHA:760
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... OMIM:617056
Cystinuria
Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis ORPHA:214
Wilson Disease
Hypoparathyroidism, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Protein... OMIM:277900
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Low anterior hair... ORPHA:261222
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Methylglutaric ac... OMIM:246450
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ... OMIM:613179
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... OMIM:614227
Glycogen Storage Disease Vii
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Hematuria, Hy... OMIM:232800
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Idiopathic Hypercalciuria
Renal calcium wasting, Hypercalciuria, Parathormone-independent increased renal tubular calcium r... ORPHA:2197
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia ORPHA:1187
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
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
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hypothyroidism, Hyperuricemia, Hirsutism ORPHA:77296
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A... ORPHA:93111
Burkitt Lymphoma
Hyperuricemia, Abnormality of the ovary ORPHA:543
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Polycystic ovaries, Hyperuricemia,... OMIM:604367
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Alstrom Syndrome
Decreased HDL cholesterol concentration, Alopecia, Renal insufficiency, Hypertriglyceridemia, Dec... OMIM:203800
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hy... OMIM:239000
Glycogen Storage Disease Ib
Pancreatic fibrosis, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeruloscler... 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, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyperuricemia, ... OMIM:232200
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Hypercalcemia, Sparse ax... ORPHA:95409
Xanthinuria, Type I
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis OMIM:278300
Hereditary Fructose Intolerance
Renal insufficiency, Episodic hyperhidrosis, Chronic kidney disease, Hypermagnesemia, Hyperuricem... ORPHA:469
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Generalized hirsutism, Polycystic ovaries, Hyperuricemia, Pancreatitis ORPHA:79083
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Increased urinary glycerol, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Chronic pancreatitis, Hyperlipidemia, Hematuria, Focal segmenta... OMIM:232240
Addison Disease
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Primary testicular failur... ORPHA:85138
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Pituitary ... ORPHA:199299
Beta-Ketothiolase Deficiency
Ketonuria, Hyperuricemia, Hyperammonemia ORPHA:134
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Ketonuria, Hyperammonemia, 3-Methylglutaric aciduria, Hyperuricemia ORPHA:20
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Nephrolithiasi... ORPHA:79259
Gaisböck Syndrome
Hypertriglyceridemia, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circulating r... ORPHA:90041
Cockayne Syndrome
Anhidrosis, Dry hair, Neurogenic bladder, Renal insufficiency, Urinary incontinence, Unilateral r... ORPHA:191
Familial Osteodysplasia, Anderson Type
Hyperuricemia, Thick eyebrow ORPHA:2769
Eisenmenger Syndrome
Hyperuricemia, Renal insufficiency, Abnormal B-type natriuretic peptide concentration, Elevated c... 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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