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Gene: Edc3 MGI:2142951

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Gene Summary

Name:
enhancer of mRNA decapping 3
Synonyms:
Yjdc,  Lsm16

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Edc3em1(IMPC)Tcp HET Early adult 0.00
abnormal eye morphology Edc3em1(IMPC)Tcp HET Early adult 0.00
abnormal testis morphology Edc3em1(IMPC)Tcp HET Early adult 0.00
increased mean platelet volume Edc3em1(IMPC)Tcp HOM Early adult 8.32×10-06
enlarged lymph nodes Edc3em1(IMPC)Tcp HOM Early adult 0.00
enlarged kidney Edc3em1(IMPC)Tcp HET Early adult 0.00
abnormal kidney morphology Edc3em1(IMPC)Tcp HET Early adult 0.00
increased circulating alkaline phosphatase level Edc3em1(IMPC)Tcp HET Early adult 1.20×10-05
abnormal skin morphology Edc3em1(IMPC)Tcp HET Early adult 0.00
enlarged urinary bladder Edc3em1(IMPC)Tcp HET Early adult 0.00
single kidney Edc3em1(IMPC)Tcp HOM Early adult 0.00

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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 Skull Lateral Orientation

17 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

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Eye Morphology

Images Ophthalmoscopy

106 Images

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Gross Pathology and Tissue Collection

Images

18 Images

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Histopathology

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

17 Images

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X-ray

XRay Images Whole Body Lateral Orientation

17 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

8 Images

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Combined SHIRPA and Dysmorphology

Images

4 Images

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Eye Morphology

Images Slit Lamp

15 Images

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Human diseases caused by Edc3 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.

The table below shows human diseases associated to Edc3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 50
OMIM:616460

The table below shows human diseases predicted to be associated to Edc3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormality of the kidney, Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-ind... OMIM:155100
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Renal insufficiency, Increased mean platelet volume... ORPHA:182050
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hepatosplen... OMIM:619902
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... OMIM:153670
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Hydronephrosis, Thrombocytopenia OMIM:300048
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... OMIM:602088
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal ... OMIM:613092
Radial-Renal Syndrome
Ectopic kidney, Unilateral renal agenesis OMIM:179280
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Ambiguous genitalia, Hyperechogenic kidneys OMIM:613885
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease OMIM:617661
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor... ORPHA:90301
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Denys-Drash Syndrome
Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi... OMIM:194080
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Bernard-Soulier Syndrome
Giant platelets, Macroscopic hematuria, Decreased platelet glycoprotein Ib-IX-V, Partially duplic... ORPHA:274
Bladder Exstrophy And Epispadias Complex
Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Horseshoe kidney OMIM:600057
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... OMIM:169400
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Ectopic kidney, Unilateral renal agenesis OMIM:601076
Oligomeganephronia
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn... ORPHA:2260
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreat... OMIM:263200
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Anemia of inadequate production, Unilateral renal agenesis, Neutropenia OMIM:614900
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Renal Agenesis
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age... ORPHA:411709
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia OMIM:620475
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hypospadias, Increased mean platelet volume, Hydronephrosis, Thrombocy... OMIM:616737
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Pancytopenia, Proximal tubulopathy, Hyperechogenic kidneys, Thrombocyt... OMIM:614576
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Micropenis, Crossed fused renal ectopia OMIM:618142
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral agenesis, Ureteral dysgenesis OMIM:274265
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Splenomegaly, Stage 5 chronic kidney dis... OMIM:216360
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis OMIM:618504
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic... OMIM:608836
Spherocytosis, Type 5
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... OMIM:612690
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Anemia, Hemolytic-uremic syndrome, Hypospadias, Hydronephrosis, Thrombocytopenia... OMIM:611209
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis OMIM:608572
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Hepatomegaly, Polycystic kidney dysplasia, Pancreatic c... OMIM:208540
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Horseshoe kidney, Unilateral renal agenesis OMIM:613680
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Bone marro... OMIM:617303
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Unilateral renal agenesis OMIM:618494
Fraser Syndrome 2
Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Hypoplasia of the th... OMIM:617666
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Fanconi Anemia, Complementation Group N
Aplastic anemia, Ectopic kidney, Unilateral renal agenesis, Acute myeloid leukemia, Pelvic kidney... OMIM:610832
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ... OMIM:617641
Kaposiform Lymphangiomatosis
Enlarged kidney, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnormal lympha... ORPHA:464329
Igg4-Related Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Urinary bladder inflammation, Acu... ORPHA:449395
Granulomatous Slack Skin
Acute kidney injury, Abnormal lymph node morphology, Nephrocalcinosis, Hypercalcemia ORPHA:33111
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi... OMIM:232220
H Syndrome
Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Azoospermia, D... ORPHA:168569
Syndromic Diarrhea
Polycystic kidney dysplasia, Hypoplasia of the thymus, Increased mean platelet volume, Renal hypo... ORPHA:84064
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Asplenia OMIM:615415
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Abnormality of the lymphatic system, Increased mean plate... ORPHA:487796
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Increased blood urea nitrogen, Hypercalcemia, Macroscopic hematuria, Proteinuria... ORPHA:251004
Houge-Janssens Syndrome 2
Unilateral renal agenesis OMIM:616362
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,... ORPHA:276280
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Branchiootorenal Syndrome 1
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... OMIM:113650
Trichohepatoenteric Syndrome 1
Hypospadias, Galactosuria, Increased mean platelet volume, Renal cortical microcysts, Splenomegal... OMIM:222470
Fliedner-Zweier Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis OMIM:620511
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Hypophosphatemic ricke... OMIM:276700
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa... ORPHA:97290
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Hypospadias, Recurrent urinary tract infect... ORPHA:363444
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi... OMIM:232200
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn... OMIM:137920
Emanuel Syndrome
Recurrent urinary tract infections, Renal hypoplasia, Micropenis, Unilateral renal agenesis OMIM:609029
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis OMIM:118100
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Vesicoureteral reflux, Micropenis, Unilateral renal agenesis, Leukemia OMIM:619951
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Lymphopenia, Micropenis OMIM:616541
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex... OMIM:614377
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Methylmalonic aciduria, Unilateral renal agenesis, Neutropenia ORPHA:79284
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph... OMIM:130650
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha... OMIM:617718
Ehlers-Danlos Syndrome, Classic-Like, 1
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Anemia, Unilateral renal agenesis, Pancytopenia, Vesicoureteral reflux, Renal hypoplasia, Thrombo... OMIM:620654
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly, Pancreatic fibrosis, Polysplenia OMIM:200995
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Emanuel Syndrome
Renal hypoplasia, Micropenis, Unilateral renal agenesis ORPHA:96170
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Lymphopenia, Eosinophilia, Lymph node hypoplasia, Splenomegaly, Aplasia of the... OMIM:602450
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Small scrotum, Ambiguous geni... OMIM:612651
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Proteinuria, Macrothrombocytopenia, Aminoac... OMIM:603585
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca OMIM:615709
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Hyperparathyroidism OMIM:618188
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:79128
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Tubulointerstitial... ORPHA:85450
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Shashi-Pena Syndrome
Unilateral renal agenesis OMIM:617190
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis OMIM:619227
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut... OMIM:613179
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis OMIM:613091
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Bone marrow hypocellularity, Hepatosplenomegaly, Proteinuria... ORPHA:505248
Meacham Syndrome
Blind vagina, Enlarged kidney, Accessory spleen, Bicornuate uterus, Male pseudohermaphroditism, S... OMIM:608978
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Abnormal lymph node morphology, Leukocytosis, Abnormality of thrombocytes, Hepatosplenome... OMIM:612840
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Polycystic kidney ... ORPHA:731
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis OMIM:608980
Fanconi Anemia, Complementation Group L
Anemia, Unilateral renal agenesis, Bone marrow hypocellularity, Renal hypoplasia, Micropenis OMIM:614083
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Tubuloint... OMIM:174000
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... OMIM:187900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Re... ORPHA:2237
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Enlarged kidney, Hepatomegaly, Hyperuricemia, Tubulointerstitial fibrosis, ... ORPHA:79259
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr... OMIM:614527
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,... OMIM:618280
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Recurrent urinary tract infections, B lymphocytopenia, Decreased propo... ORPHA:221139
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Abnormal pancreas morphology, Congenital meg... ORPHA:116
Leprechaunism
Enlarged kidney, Clitoral hypertrophy, Hepatomegaly, Hypokalemia, Long penis, Hypercalciuria, Enl... ORPHA:508
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Horseshoe kidney, Ectopic kidney ORPHA:3109
Congenital Disorder Of Glycosylation, Type Iiaa
Hydronephrosis, Unilateral renal agenesis OMIM:620454
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Mucopolysacchariduria, Spleno... OMIM:252500
Cockayne Syndrome Type 3
Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Renal hypoplasia, Hydronephrosis, Spl... ORPHA:90324
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis ORPHA:464311
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus, A... ORPHA:79328
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis ORPHA:464306
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Hydronephrosis, Hypospadias, Enuresis ORPHA:96121
Neurooculorenal Syndrome
Unilateral renal agenesis, Bilateral renal agenesis, Stage 2 chronic kidney disease, Hyperechogen... OMIM:620305
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal renal collecting system morphology, Unilateral renal agenesis, Hypospadias, Pelvic kidne... ORPHA:468631
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis, Accessory spleen OMIM:618419
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis OMIM:101800
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Hypospadias, Unilateral renal agenesis, Duplicated collecting system, Re... OMIM:270400
Ogden Syndrome
Enlarged kidney, Polycystic kidney dysplasia, Hyperbilirubinemia, Decreased testicular size, Glob... OMIM:300855
Cockayne Syndrome
Urinary incontinence, Unilateral renal agenesis, Neurogenic bladder, Nephrotic syndrome, Renal hy... ORPHA:191
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Bilateral renal agenesis, Hydroureter, Unilateral renal agenesis OMIM:619194
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Hypospadias, Vesicoureteral reflux, Micropenis, Dilatation of the rena... ORPHA:95699
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Asplenia, Renal agenesis, Cardiomegaly, Horseshoe kidney, Polysplenia OMIM:306955
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Decreased response to growth hormone stimulation test, Recurrent urinary tract i... OMIM:615873
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney OMIM:602200
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis OMIM:213980
Scalp-Ear-Nipple Syndrome
Renal hypoplasia, Unilateral renal agenesis, Renal insufficiency, Pyelonephritis OMIM:181270
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis OMIM:620024
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis OMIM:308050
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia ORPHA:500095
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis ORPHA:2673
Digeorge Syndrome
Anemia, Unilateral renal agenesis, Hypoplasia of the thymus, Hydronephrosis, Thrombocytopenia, Sp... OMIM:188400
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Unilateral renal agenesis, Hypospadias, Recurrent urinary tract infections, Chordee, Dilatation o... ORPHA:268261
Leopard Syndrome 1
Unilateral renal agenesis, Micropenis, Hypospadias OMIM:151100
Proteus Syndrome
Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Enlarged polycystic ovaries, ... ORPHA:744
Zttk Syndrome
Polyuria, Horseshoe kidney, Unilateral renal agenesis OMIM:617140
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr... OMIM:312870
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis ORPHA:457284
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis OMIM:154400
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis ORPHA:261337
8Q24.3 Microdeletion Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Pelvic kidney, Vesicoureteral reflux, Bilat... ORPHA:508488
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Pelvic kidney, Urinary urgency, Hepatosplenomegaly, Micropenis, Hemoly... OMIM:619503
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, Recurrent urinary tract infections, T lymphocytopenia, Lymph node hypo... OMIM:300755
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Pyelonephritis, Unilateral renal agenesis ORPHA:90348
Proboscis Lateralis
Duplication of renal pelvis, Ureteral agenesis, Unilateral renal agenesis ORPHA:141099
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Horseshoe kidney, Bilateral renal dysplasia ORPHA:500150
Pallister-Hall Syndrome
Hypospadias, Ectopic kidney, Unilateral renal agenesis, Bilateral renal agenesis, Renal dysplasia... ORPHA:672
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Hypospadias, Renal agenesis, Renal dysplasia, Multicystic kidney dyspl... OMIM:308205
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Lymphangioma, D-2-hydroxyglutaric aciduria, Unilateral renal agenesis, Acute myelomonocytic leukemia ORPHA:99646
Intellectual Developmental Disorder, Autosomal Recessive 50
OMIM:616460

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 Edc3

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 Edc3.

No publications found that use IMPC mice or data for Edc3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Edc3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Edc3tm78954(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Edc3em1(IMPC)Tcp Exon Deletion Mice

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