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
abnormal cholesterol homeostasis Cpdem1(IMPC)J HET Early adult 1.33×10-05
increased circulating aspartate transaminase level Cpdem1(IMPC)J HET Early adult 1.60×10-06
impaired glucose tolerance Cpdem1(IMPC)J HET Early adult 1.47×10-05
abnormal embryo size Cpdem1(IMPC)J HOM E18.5 0.00
pallor Cpdem1(IMPC)J HOM E18.5 0.00
increased circulating creatinine level Cpdem1(IMPC)J HET Early adult 6.47×10-05
preweaning lethality, complete penetrance Cpdem1(IMPC)J HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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 Whole Body Dorso Ventral

10 Images

Combined SHIRPA and Dysmorphology

Images

4 Images

X-ray

XRay Images Forepaw

10 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Morphology Embryo E18.5

Images

2 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Gross Morphology Placenta E18.5

Images

2 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
Retinitis Pigmentosa 81
Pallor OMIM:617871
Retinitis Pigmentosa 42
Pallor OMIM:612943
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Retinitis Pigmentosa 60
Pallor OMIM:613983
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Azotemia, Familial
Azotemia OMIM:109160
Optic Atrophy 9
Pallor OMIM:616289
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Breath-Holding Spells
Pallor OMIM:607578
Retinitis Pigmentosa 70
Pallor OMIM:615922
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Retinitis Pigmentosa 73
Pallor OMIM:616544
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Insulinomatosis And Diabetes Mellitus
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:147630
Interstitial Nephritis, Karyomegalic
Glycosuria, Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Retinitis Pigmentosa 27
Pallor OMIM:613750
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Reduced C-peptide level, Elevated hemoglobin A1c, Hyperglycemia, Type I di... OMIM:618858
Preeclampsia
Elevated circulating creatinine concentration, Type I diabetes mellitus ORPHA:275555
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Diabetes Mellitus, Permanent Neonatal, 1
Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, Hyperglycemia, Type I diabet... OMIM:606176
Myelofibrosis
Pallor, Purpura OMIM:254450
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Hemoglobin D Disease
Pallor ORPHA:90039
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Retinitis Pigmentosa 75
Pallor OMIM:617023
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Irida Syndrome
Pallor ORPHA:209981
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Elliptocytosis 1
Pallor OMIM:611804
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Retinitis Pigmentosa 51
Pallor OMIM:613464
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Hyperlipoproteinemia, Type V
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Diabete... OMIM:144650
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Senior-Loken Syndrome 8
Pallor OMIM:616307
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Elevated circulating creatinine concentration, Insulin resistance, Hyperinsulinemia... ORPHA:230
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus ORPHA:439232
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Decreased plasma total carnitine, Elevated circulating creatinine concentration, No... OMIM:608836
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Cold Agglutinin Disease
Pallor ORPHA:56425
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Elevated hemoglobin A1c, ... ORPHA:552
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Primary Myelofibrosis
Pallor, Petechiae, Purpura, Ecchymosis ORPHA:824
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Renal Cysts And Diabetes Syndrome
Glycosuria, Elevated circulating creatinine concentration, Hyperuricemia, Glucose intolerance, Di... OMIM:137920
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Dravet Syndrome
Pallor ORPHA:33069
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Tay-Sachs Disease
Pallor OMIM:272800
Fanconi Anemia, Complementation Group I
Pallor, Intrauterine growth retardation OMIM:609053
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Rheumatic Fever
Pallor, Erythema ORPHA:3099
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemi... ORPHA:411634
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
American Trypanosomiasis
Pallor ORPHA:3386
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Letterer-Siwe Disease
Pallor OMIM:246400
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Elevated circulating creatinine concentrat... ORPHA:85450
Childhood Absence Epilepsy
Pallor ORPHA:64280
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Fumarase Deficiency
Pallor OMIM:606812
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Sepsis In Premature Infants
Pallor, Petechiae, Purpura ORPHA:90051
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol concentration OMIM:618885
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:49041
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Rare Circulatory System Disease
Pallor ORPHA:98028
Aregenerative Anemia
Pallor ORPHA:101096
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Hyponatremia, Elevated circulating creatinine conce... ORPHA:90038
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Marburg Hemorrhagic Fever
Hypokalemia, Hypoglycemia, Elevated circulating creatinine concentration, Hyperamylasemia, Elevat... ORPHA:99826
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Adenohypophysitis
Pallor ORPHA:95512
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Pituitary Apoplexy
Pallor ORPHA:95613
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Panhypophysitis
Pallor ORPHA:95513
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Prolactinoma
Pallor ORPHA:2965
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Incontinentia Pigmenti
Pallor, Erythema OMIM:308300
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema OMIM:557000
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Fanconi Anemia, Complementation Group C
Anemic pallor, Intrauterine growth retardation OMIM:227645
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Elevated circulating C-reactive protein concentration, E... ORPHA:449395
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Diamond-Blackfan Anemia 1
Pallor, Intrauterine growth retardation OMIM:105650
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Esophageal Atresia
Pallor ORPHA:1199
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Histiocytoid Cardiomyopathy
Pallor ORPHA:137675
Yellow Fever
Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Elevated circulating crea... ORPHA:99829
Degcags Syndrome
Pallor, Intrauterine growth retardation OMIM:619488
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Autosomal Recessive Malignant Osteopetrosis
Pallor ORPHA:667
Von Hippel-Lindau Disease
Pallor ORPHA:892
Blackfan-Diamond Anemia
Pallor ORPHA:124
Fanconi Anemia, Complementation Group D2
Anemic pallor OMIM:227646
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Elevated circulating C-reactive protein concentration, Elevated circulating creati... ORPHA:91500
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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