Gene Summary

Name:
carboxypeptidase D
Synonyms:
D830034L15Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating aspartate transaminase level Cpdem1(IMPC)J HET Early adult 3.43×10-06
impaired glucose tolerance Cpdem1(IMPC)J HET Early adult 4.37×10-06
abnormal cholesterol homeostasis Cpdem1(IMPC)J HET Early adult 7.33×10-06
pallor Cpdem1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Cpdem1(IMPC)J HOM   Early adult 0.00
abnormal embryo size Cpdem1(IMPC)J HOM E18.5 0.00
increased circulating creatinine level Cpdem1(IMPC)J HET Early adult 3.63×10-05

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Viewing: all phenotypes

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.

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Morphology Placenta E18.5

Images

2 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Electroretinography 3

Fundus file

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Morphology Embryo E18.5

Images

2 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Cpd 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 Cpd by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Breath-Holding Spells
Pallor OMIM:607578
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Peripheral Cone Dystrophy
Pallor OMIM:609021
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea nitrogen OMIM:617872
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration, Glycosuria OMIM:615605
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Preeclampsia
Type I diabetes mellitus, Elevated circulating creatinine concentration ORPHA:275555
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Myelofibrosis
Pallor, Purpura OMIM:254450
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Hemoglobin D Disease
Pallor ORPHA:90039
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Irida Syndrome
Pallor ORPHA:209981
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor OMIM:613561
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Elliptocytosis 1
Pallor OMIM:611804
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Retinitis Pigmentosa 51
Pallor OMIM:613464
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Retinitis Pigmentosa 75
Pallor OMIM:617023
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Diabetes mellitus, Increased VLDL cholesterol concentrat... OMIM:144650
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... ORPHA:230
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Aapoaiv Amyloidosis
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration ORPHA:439232
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat... OMIM:608836
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Cold Agglutinin Disease
Pallor ORPHA:56425
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Dravet Syndrome
Pallor ORPHA:33069
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Tay-Sachs Disease
Pallor OMIM:272800
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Elevated cir... OMIM:137920
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor OMIM:609053
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Plummer-Vinson Syndrome
Pallor ORPHA:54028
American Trypanosomiasis
Pallor ORPHA:3386
Senior-Loken Syndrome 8
Pallor OMIM:616307
Childhood Absence Epilepsy
Pallor ORPHA:64280
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Aminoacidu... ORPHA:411634
Letterer-Siwe Disease
Pallor OMIM:246400
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia OMIM:618885
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Sepsis In Premature Infants
Pallor, Petechiae, Purpura ORPHA:90051
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Aregenerative Anemia
Pallor ORPHA:101096
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Adenohypophysitis
Pallor ORPHA:95512
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Panhypophysitis
Pallor ORPHA:95513
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Marburg Hemorrhagic Fever
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... ORPHA:99826
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Prolactinoma
Pallor ORPHA:2965
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Fumarase Deficiency
Pallor OMIM:606812
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Incontinentia Pigmenti
Erythema, Pallor OMIM:308300
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Anemic pallor OMIM:227645
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Histiocytoid Cardiomyopathy
Pallor ORPHA:137675
Diamond-Blackfan Anemia 1
Intrauterine growth retardation, Spina bifida occulta, Pallor OMIM:105650
Esophageal Atresia
Pallor ORPHA:1199
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Degcags Syndrome
Intrauterine growth retardation, Pallor OMIM:619488
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Yellow Fever
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... ORPHA:99829
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... ORPHA:449395
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Diamond-Blackfan Anemia
Pallor ORPHA:124
Autosomal Recessive Malignant Osteopetrosis
Pallor ORPHA:667
Von Hippel-Lindau Disease
Pallor ORPHA:892
Fanconi Anemia, Complementation Group D2
Anemic pallor OMIM:227646
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... ORPHA:91500
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Goodpasture Syndrome
Pallor OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125

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 Cpd

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 Cpd.

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

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MGI Allele Allele Type Produced
Cpdem1(IMPC)J Exon Deletion Mice

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