banner
Genes Phenotypes Help, News, Blog

Gene: Edc3 MGI:2142951

Log in to follow

Gene Summary

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

Order Alleles

IMPC Data Collections

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 urinary bladder Edc3em1(IMPC)Tcp HET Early adult 0.00
enlarged kidney Edc3em1(IMPC)Tcp HET Early adult 0.00
abnormal testis morphology Edc3em1(IMPC)Tcp HET Early adult 0.00
abnormal eye morphology Edc3em1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, incomplete penetrance Edc3em1(IMPC)Tcp HOM   Early adult 0.00
single kidney Edc3em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology 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 1.19×10-05
increased mean platelet volume Edc3em1(IMPC)Tcp HOM   Early adult 8.32×10-06
enlarged lymph nodes Edc3em1(IMPC)Tcp HET Early adult 0.00
enlarged lymph nodes Edc3em1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Eye Morphology

Images Ophthalmoscopy

106 Images

View images
Gross Pathology and Tissue Collection

Images

18 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

8 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

17 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

17 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

View images
X-ray

XRay Images Skull Lateral Orientation

17 Images

View images
Histopathology

Images

8 Images

View images
Combined SHIRPA and Dysmorphology

Images

4 Images

View images
Eye Morphology

Images Slit Lamp

15 Images

View images

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, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... OMIM:187800
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormality of the kidney, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induce... OMIM:155100
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria, Giant platelets, Congenital thrombocyto... ORPHA:182050
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Renal Hypoplasia
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... ORPHA:93101
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Bernard-Soulier Syndrome
Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant ... OMIM:231200
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Hepatorenocardiac Degenerative Fibrosis
Renal interstitial fibrosis, Enlarged kidney, Hypersplenism, Hepatosplenomegaly, Renal cyst, Redu... OMIM:619902
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... OMIM:617443
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired collagen-related peptide-induced platelet aggregation, Hemolytic anemia,... OMIM:153670
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Splenomegaly, Hepatomegaly OMIM:615285
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets ORPHA:238459
Nephronophthisis 16
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... OMIM:615382
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... OMIM:602088
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Ureteral atresia, Unilateral renal agenesis, Bilateral renal agenesis OMIM:618845
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume, Hydronephrosis OMIM:300048
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Ambiguous genitalia OMIM:613885
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged ... ORPHA:90301
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnormality of the k... ORPHA:85445
Radial-Renal Syndrome
Ectopic kidney, Unilateral renal agenesis OMIM:179280
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease OMIM:617661
Denys-Drash Syndrome
Nephroblastoma, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous... OMIM:194080
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Anemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segme... OMIM:613092
Bleeding Disorder, Platelet-Type, 19
Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:616176
Sitosterolemia 1
Stomatocytosis, Anemia, Reticulocytosis, Impaired platelet aggregation, Episodic hemolytic anemia... OMIM:210250
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Acute leukemia, Unilateral renal agenesis ORPHA:281090
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Renal agenesis, Unilateral renal agenesis OMIM:601076
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... OMIM:169400
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... ORPHA:730
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macroscopic hematuria, Partially duplic... ORPHA:274
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dyspla... OMIM:263200
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Congenital Disorder Of Glycosylation, Type Iil
Proximal tubulopathy, Unilateral renal agenesis, Pancytopenia, Thrombocytopenia, Hyperechogenic k... OMIM:614576
Renal Agenesis
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... ORPHA:411709
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hypospadias, Thrombocytopenia, Increased mean platelet volume, Hydrone... OMIM:616737
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis OMIM:618504
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Crossed fused renal ectopia, Unilateral renal agenesis OMIM:618142
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... OMIM:608836
Coach Syndrome 1
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Unilateral renal agenesis, ... OMIM:216360
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... OMIM:143400
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Anemia, Hypospadias, Thrombocytopenia, Giant platelets, Renal insuffic... OMIM:611209
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis OMIM:608572
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic kidney, Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis ORPHA:3109
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Pol... OMIM:208540
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Nephritis, Bone marrow hypocellularit... OMIM:617303
Glycogen Storage Disease Ib
Hyperuricemia, Enlarged kidney, Decreased glomerular filtration rate, Pancreatic fibrosis, Hepato... OMIM:232220
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract infections OMIM:613680
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Unilateral renal agenesis, Hydronephrosis OMIM:618494
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis OMIM:274265
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology, Hypercalcemia ORPHA:33111
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydronephrosis OMIM:609757
Kaposiform Lymphangiomatosis
Pancreatic cysts, Enlarged kidney, Abnormal spleen morphology, Abnormal lymphatic vessel morpholo... ORPHA:464329
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Vesicoureteral reflux, Bifid ureter, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, ... OMIM:617641
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly, Asplenia OMIM:615415
H Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the kidney, Enlarged kidney, Azoospermia,... ORPHA:168569
Syndromic Diarrhea
Hypoplasia of the thymus, Polycystic kidney dysplasia, Increased mean platelet volume, Lymphopeni... ORPHA:84064
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney, Hydrocele testis, Ovarian serous cystadenoma, Abnormality of the... ORPHA:276280
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea nitrogen, Hyperca... ORPHA:251004
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... OMIM:612690
Lathosterolosis
Anisopoikilocytosis, Hepatosplenomegaly, Schistocytosis, Horseshoe kidney, Increased mean platele... OMIM:607330
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Abnormality of the lymphatic system, Hypospadias, Thrombocytopenia, In... ORPHA:487796
Branchiootorenal Syndrome 1
Renal steatosis, Vesicoureteral reflux, Renal dysplasia, Renal malrotation, Polycystic kidney dys... OMIM:113650
Intellectual Developmental Disorder, Autosomal Dominant 36
Unilateral renal agenesis OMIM:616362
Tyrosinemia, Type I
Hypermethioninemia, Enlarged kidney, Glomerular sclerosis, Elevated circulating alpha-fetoprotein... OMIM:276700
Renal Cysts And Diabetes Syndrome
Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Unilateral renal agenesis,... OMIM:137920
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Prostatitis, Renal interstitial immunoglobulin deposits, Sialadeniti... ORPHA:449395
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Eosinophilia ORPHA:482
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Galactosuria, Hypospadias, Thrombocytosis, Renal cortical microcy... OMIM:222470
Glycogen Storage Disease Ia
Hyperuricemia, Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, Hyperlipidemi... OMIM:232200
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Abnormality of the kidney, Unilateral renal agenesis, Hypospa... ORPHA:363444
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Urethral atresia, Hydronephrosis OMIM:314390
Emanuel Syndrome
Renal hypoplasia, Micropenis, Unilateral renal agenesis, Recurrent urinary tract infections OMIM:609029
Diaphanospondylodysostosis
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis OMIM:608022
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis OMIM:118100
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Unilateral renal agenesis, Lymphopenia, Ectopic kidney, Renal hypoplasia, Micropenis OMIM:616541
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Gonadoblastoma, Cardiomegaly, Renal cortical cysts, Pancre... OMIM:130650
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Vesicoureteral reflux, Micropenis, Unilateral renal agenesis, Leukemia OMIM:619951
Methylmalonic Acidemia With Homocystinuria Type Cblf
Methylmalonic aciduria, Neutropenia, Megaloblastic anemia, Unilateral renal agenesis ORPHA:79284
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Polysplenia, Cystic renal dysplasia, Pancreatic fibrosis, Hepatomegaly OMIM:200995
Emanuel Syndrome
Renal hypoplasia, Micropenis, Unilateral renal agenesis ORPHA:96170
Endocrine-Cerebroosteodysplasia
Ambiguous genitalia, Sex reversal, Microphallus, Enlarged kidney, Hypospadias, Cryptorchidism, Hy... OMIM:612651
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Lymphadenopathy, Cervical lymphadenopathy, Thrombocytopenia, Decreased mean platel... OMIM:617718
Nephronophthisis 13
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... OMIM:614377
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Abnormal lymph node morphology, Abnormal testis morphology, Hepatosplenome... ORPHA:85450
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Prote... OMIM:603585
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Splenic cyst, Unilateral renal agenesis, Hyperparathyroidism, Ovarian cyst OMIM:618188
Lymphoid Interstitial Pneumonia
Enlarged kidney, Mediastinal lymphadenopathy, Hepatomegaly ORPHA:79128
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... OMIM:602450
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis OMIM:619227
Shashi-Pena Syndrome
Unilateral renal agenesis OMIM:617190
Meacham Syndrome
Bicornuate uterus, Enlarged kidney, Male pseudohermaphroditism, Blind vagina, Accessory spleen, H... OMIM:608978
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Ambiguous genitalia, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Micropenis OMIM:613091
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Enlarged kidney, Hepatosplenomegaly, Hypoalbuminemia, Bone marrow hypocellula... ORPHA:505248
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Biliary hyperplasia, Recurrent urinary tract infections, Acute kidney injury, E... ORPHA:731
Fanconi Anemia, Complementation Group L
Anemia, Unilateral renal agenesis, Bone marrow hypocellularity, Renal hypoplasia, Micropenis OMIM:614083
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis OMIM:608980
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Hyperuricemia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic ... ORPHA:79259
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Stag... OMIM:614527
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, R... ORPHA:2237
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Reduced natural killer cell count, Abnormal T cell subset distribution, B lymphocytopenia, Recurr... ORPHA:221139
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Splenomegaly, Gonadoblastoma, Congenital megaureter, Enlar... ORPHA:116
Leprechaunism
Clitoral hypertrophy, Enlarged kidney, Hypokalemia, Labial hypertrophy, Increased circulating ren... ORPHA:508
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut... OMIM:187900
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Neutropenia in presence of anti-neutropil antibodies, Pure re... OMIM:613179
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Anemia, Stage 5 chronic kidney disease, Rena... OMIM:174000
Cockayne Syndrome Type 3
Urinary retention, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Renal hypoplasia, ... ORPHA:90324
Alg9-Cdg
Hypoplasia of the bladder, Bicornuate uterus, Enlarged kidney, Ureteral hypoplasia, Hypoplasia of... ORPHA:79328
Cardiac-Urogenital Syndrome
Ambiguous genitalia, Bifid scrotum, Enlarged kidney, Patent urachus, Unilateral cryptorchidism, A... OMIM:618280
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Enlarged kidney, Mucopolysacchariduria, Hepatomegaly, Cardio... OMIM:252500
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Renal agenesis, Bone marrow hypocellularity, Anemia of inadequate production OMIM:614900
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Renal cyst, Hypospadias, Pelvic kidney, Micropenis, Hydronephrosis ORPHA:464311
7Q11.23 Microduplication Syndrome
Enuresis, Hypospadias, Unilateral renal agenesis, Hydronephrosis ORPHA:96121
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Renal cyst, Hypospadias, Pelvic kidney, Micropenis, Hydronephrosis ORPHA:464306
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Neonatal death, Unilateral renal agenesis OMIM:620024
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Decreased... ORPHA:276
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis OMIM:101800
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Unilateral renal agenesis OMIM:618419
Smith-Lemli-Opitz Syndrome
Splenomegaly, Renal agenesis, Unilateral renal agenesis, Renal cyst, Hypospadias, Duplicated coll... OMIM:270400
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Stillbirth, Hydronephrosis OMIM:308050
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microphallus, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Abnormal renal collecting sy... ORPHA:468631
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Vesicoureteral reflux, Unilateral renal agenesis, Hypospadias, Stillbirth, Dilatation of the rena... ORPHA:95699
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... OMIM:301000
Ogden Syndrome
Decreased testicular size, Enlarged kidney, Polycystic kidney dysplasia, Hyperbilirubinemia, Hydr... OMIM:300855
Cockayne Syndrome
Urinary incontinence, Nephrotic syndrome, Neurogenic bladder, Unilateral renal agenesis, Abnormal... ORPHA:191
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Unilateral renal agenesis, Bilateral renal agenesis OMIM:619194
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis OMIM:213980
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Decreased response to growth hormone stimulation test, Recurrent urinary tract... OMIM:615873
Heterotaxy, Visceral, 1, X-Linked
Asplenia, Enlarged kidney, Polysplenia, Renal agenesis, Horseshoe kidney, Hepatomegaly, Cardiomegaly OMIM:306955
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis ORPHA:2673
Scalp-Ear-Nipple Syndrome
Renal hypoplasia, Renal insufficiency, Pyelonephritis, Unilateral renal agenesis OMIM:181270
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Renal malrotation, Enlarged kidney ORPHA:500095
Digeorge Syndrome
Anemia, Hypoplasia of the thymus, Renal dysplasia, Unilateral renal agenesis, Abnormality of the ... OMIM:188400
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly OMIM:261740
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Unilateral renal agenesis, Hypospadias, Dilatation of the ren... ORPHA:268261
Ventriculomegaly With Defects Of The Radius And Kidney
Ectopic kidney, Renal agenesis, Horseshoe kidney, Ureteral duplication OMIM:602200
Leopard Syndrome 1
Micropenis, Hypospadias, Unilateral renal agenesis OMIM:151100
Zttk Syndrome
Horseshoe kidney, Polyuria, Unilateral renal agenesis OMIM:617140
Fanconi Anemia, Complementation Group A
Anemia, Reticulocytopenia, Renal agenesis, Pancytopenia, Ectopic kidney, Duplicated collecting sy... OMIM:227650
Fanconi Anemia, Complementation Group E
Anemia, Reticulocytopenia, Renal agenesis, Pancytopenia, Ectopic kidney, Duplicated collecting sy... OMIM:600901
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis ORPHA:457284
Simpson-Golabi-Behmel Syndrome, Type 1
Nephroblastoma, Enlarged kidney, Polysplenia, Supernumerary nipple, Renal cyst, Duplication of re... OMIM:312870
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis OMIM:154400
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis ORPHA:261337
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Pyelonephritis, Unilateral renal agenesis ORPHA:90348
8Q24.3 Microdeletion Syndrome
Vesicoureteral reflux, Abnormality of the kidney, Unilateral renal agenesis, Pelvic kidney, Bilat... ORPHA:508488
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Urinary urgency, Unilateral renal agenesis, Hepatosplenomegaly, Pelvic kidney, ... OMIM:619503
Proboscis Lateralis
Ureteral agenesis, Duplication of renal pelvis, Unilateral renal agenesis ORPHA:141099
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, Hypospa... OMIM:308205
Agammaglobulinemia, X-Linked
Anemia, T lymphocytopenia, B lymphocytopenia, Recurrent urinary tract infections, Lymph node hypo... OMIM:300755
Pallister-Hall Syndrome
Bilateral renal agenesis, Renal dysplasia, Unilateral renal agenesis, Ectopic kidney, Hypospadias... ORPHA:672
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Bilateral renal dysplasia, Horseshoe kidney ORPHA:500150
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Acute myelomonocytic leukemia, D-2-hydroxyglutaric aciduria, Unilateral renal agenesis, Lymphangioma 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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter