Gene Summary

Name:
solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20
Synonyms:
Cact,  mCAC,  1110007P09Rik

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
preweaning lethality, complete penetrance Slc25a20tm1a(EUCOMM)Wtsi 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 Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

DSS Histology

Images

8 Images

Anti-nuclear antibody assay

Images

6 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 122 images

Human diseases caused by Slc25a20 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 Slc25a20 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Hepatomegaly, Premature ventricular contraction, Hypotension, Elevated hepatic tr... OMIM:212138
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hepatic failure, Arrhythmia, Hypotension, Oliguria, Elevated hepatic transaminase, ... ORPHA:159

The table below shows human diseases predicted to be associated to Slc25a20 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Capillary Malformation-Arteriovenous Malformation
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... ORPHA:137667
Parkes Weber Syndrome
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... ORPHA:90307
Telangiectasia, Hereditary Hemorrhagic, Type 4
High-output congestive heart failure, Cerebral hemorrhage, Spinal arteriovenous malformation, Dil... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... OMIM:187300
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... OMIM:600376
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Stroke, Hepatic arteriovenous malformation, Mitral regurgitation, Pulmonary arteriovenous malform... OMIM:175050
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Arteriovenous malformation, Hepatic arteriovenous malformation, Mucosal... ORPHA:2929
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Phace Syndrome
Abnormal carotid artery morphology, Coarctation of aorta, Tetralogy of Fallot, Ectopic thyroid, H... ORPHA:42775
Gjc2-Related Late-Onset Primary Lymphedema
Predominantly lower limb lymphedema, Facial edema, Genital edema, Abnormal lymphatic vessel morph... ORPHA:568051
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Hepatomegaly, Hydrops fetalis, Pulmonary embolism, Hematuria, P... ORPHA:90308
Chilblain Lupus 2
Edema, Vasculitis OMIM:614415
Ring Chromosome 8 Syndrome
Polyhydramnios, Abnormality of the ureter, Hydronephrosis ORPHA:1450
Prune Belly Syndrome
Urogenital sinus anomaly, Abnormality of the ureter, Multicystic kidney dysplasia, Recurrent urin... ORPHA:2970
Milroy Disease
Hydrocele testis, Predominantly lower limb lymphedema, Abnormal venous morphology, Lymphedema, Pe... ORPHA:79452
Familial Multiple Nevi Flammei
Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Edema, Venou... ORPHA:624
Spinal Arteriovenous Metameric Syndrome
Urinary bladder sphincter dysfunction, Arteriovenous malformation, Spinal arteriovenous malformat... ORPHA:53721
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema, Abnormal cerebral vascular morphology OMIM:152900
Thymic Aplasia With Fetal Death
Abnormality of the endocrine system, Renal agenesis, Ureteral agenesis, Stillbirth, Truncus arter... OMIM:274210
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... OMIM:208540
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the uret... ORPHA:1046
Transaldolase Deficiency
Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Abnormality of the kidney, Coarctation of aorta, ... ORPHA:101028
Trichorhinophalangeal Syndrome, Type Ii
Partial anomalous pulmonary venous return, Myocardial infarction, Cerebral arteriovenous malforma... OMIM:150230
Thoracic Outlet Syndrome
Varicose veins, Edema ORPHA:97330
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema, Abnormal cerebral vascular morphology ORPHA:86914
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Stroke, Raynaud phenomenon, Nephropathy, Retinal hemorrhage, Hematur... OMIM:611773
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter, Abnormality of the spleen ORPHA:2487
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Prominent superficial veins, Venous malformation, Edema ORPHA:75508
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria,... OMIM:105200
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Dehydration,... ORPHA:93101
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Stroke, Micronodular cirrhosis, Vasculitis in the skin, Raynaud phenomenon, Macular edema, Retina... OMIM:192315
Lymphatic Malformation 7
Facial edema, Pulmonary edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Varicose veins, Peri... OMIM:617300
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Thymic Neuroendocrine Tumor
Prominent veins on trunk, Pituitary null cell adenoma, Pituitary adenoma, Increased circulating c... ORPHA:97289
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:1053
Reversible Cerebral Vasoconstriction Syndrome
Subdural hemorrhage, Cerebral hemorrhage, Intraventricular hemorrhage, Subarachnoid hemorrhage, V... ORPHA:284388
Aortic Aneurysm, Familial Thoracic 4
Abnormal left ventricular function, Posterior cerebral artery stenosis, Stroke, Thoracic aortic a... OMIM:132900
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Pedal edema, Patent ductus arteriosus, Sinus bradycardia, Varicose ... OMIM:126320
Thymic-Renal-Anal-Lung Dysplasia
Abnormality of the endocrine system, Renal agenesis, Ureteral dysgenesis, Ureteral agenesis, Olig... OMIM:274265
Kaposi Sarcoma
Lymphedema, Abnormality of the spleen, Venous insufficiency, Abnormality of the liver ORPHA:33276
Snakebite Envenomation
Stroke, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, ... ORPHA:449285
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Telangiectasia of the skin, Arteriovenous malformation, Hepatic failure, Subarach... ORPHA:774
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter, Polyhydramnios, Patent ... ORPHA:2547
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Hepatomegaly, Complete heart block with narrow QRS comple... ORPHA:1677
Meige Disease
Predominantly lower limb lymphedema, Facial edema, Edema of the dorsum of hands, Laryngeal edema,... ORPHA:90186
Thymic Carcinoma
Abnormal vena cava morphology, Palpebral edema, Neoplasm of the thymus, Edema ORPHA:99868
Enlarged Parietal Foramina
Myelomeningocele, Abnormal cerebral vein morphology, Occipital encephalocele, Venous malformation ORPHA:60015
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous ori... OMIM:618845
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Ovarian neoplasm, Neoplasm of the thyroid gland, Venous insufficiency... ORPHA:137608
Diabetic Embryopathy
Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Tetralogy of Fallot, Abnormality of t... ORPHA:1926
Lymphatic Malformation 6
Hydrocele testis, Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetal... OMIM:616843
Mucopolysaccharidosis Type 7
Arteriovenous malformation, Splenomegaly, Hydrops fetalis, Hepatitis, Lymphedema, Mucopolysacchar... ORPHA:584
Dural Sinus Malformation
Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, Abnormal facial vein mor... ORPHA:97339
Proteus Syndrome
Venous malformation, Splenomegaly OMIM:176920
Von Willebrand Disease
Venous insufficiency ORPHA:903
Arterial Dissection-Lentiginosis Syndrome
Arteriovenous malformation, Arterial dissection ORPHA:1682
Capillary Malformation-Arteriovenous Malformation 1
Arteriovenous malformation, Arteriovenous fistula OMIM:608354
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hepatomegaly, Hepatic failure, Cirrhosis, Renal cyst, Hepatic fibr... OMIM:602579
Prune Belly Syndrome
Hydroureter, Xerostomia, Urethral valve, Patent ductus arteriosus, Hydronephrosis, Congenital pos... OMIM:100100
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema, Varicose veins, Venous malformation OMIM:613089
Dextrocardia
Congenital malformation of the great arteries, Abnormality of the ureter, Abnormality of the sple... ORPHA:1666
Wyburn-Mason Syndrome
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h... ORPHA:53719
Trisomy 13
Abnormality of the ureter, Hydrops fetalis, Multiple renal cysts, Patent ductus arteriosus, Hydro... ORPHA:3378
Alagille Syndrome
Telangiectasia of the skin, Peripheral pulmonary artery stenosis, Nephrotic syndrome, Hepatomegal... ORPHA:52
Cardiac Valvular Dysplasia 1
Mitral stenosis, Tricuspid regurgitation, Hydroureter, Hydrops fetalis, Urethral diverticulum, Ar... OMIM:212093
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return, Hypospadias, Abnormality of the ureter, Spina bifida occulta, ... ORPHA:2311
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Hyp... ORPHA:93108
Pulmonary Arteriovenous Malformation
Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Palpitations, Heart murmur, My... ORPHA:2038
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Nephrolithiasis, Hydroureter, Vesicoureteral reflux, Vascular dilatation OMIM:617219
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, Umbilical hernia ORPHA:1035
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Nephroblastoma, Spinal dysraphism, Renal hypoplasia, Venous malformation OMIM:612918
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Maternal diabetes, Arrhinencephaly, Ureteral duplicati... ORPHA:3027
Erythrocytosis, Familial, 2
Elevated circulating erythropoietin concentration, Stroke, Cerebral hemorrhage, Hypotension, Pulm... OMIM:263400
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis, Cryptorchidism, Varicose veins OMIM:314300
Foix-Alajouanine Syndrome
Urinary incontinence, Myelopathy, Arteriovenous fistula, Functional abnormality of the bladder, U... ORPHA:79093
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Recurrent urinary tract infections, Arrhythmia, Renal duplic... ORPHA:33001
Adams-Oliver Syndrome
Arteriovenous malformation, Cirrhosis, Tetralogy of Fallot, Pulmonary artery atresia, Congenital ... ORPHA:974
Vesicoureteral Reflux 3
Polyhydramnios, Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Hypospadias, Abnormality of the ureter, He... OMIM:180860
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormality of the urinary system, Abnormali... ORPHA:1834
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Urethritis, Ureteral obstruction, Hematuria, Renal inte... ORPHA:449395
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Arrhythmia, Tetralogy of Fallot, Lymphedema, Patent ductus a... OMIM:153400
Liposarcoma
Abnormality of the kidney, Varicose veins ORPHA:69078
Aneurysm Of Sinus Of Valsalva
Stroke, Heart murmur, Oliguria, Dilatation of the sinus of Valsalva, Aortic regurgitation, Edema,... ORPHA:1054
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Telangiectasia of the skin, Nephroblastoma, Ovarian serous cystadenoma, Enlarge... ORPHA:276280
Currarino Syndrome
Hypospadias, Arteriovenous malformation, Vesicoureteral reflux, Hypoplasia of penis ORPHA:1552
Blue Rubber Bleb Nevus
Arteriovenous malformation, Intestinal bleeding ORPHA:1059
Parkes weber syndrome
Arteriovenous fistula OMIM:608355
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Abnormality of the ... ORPHA:2869
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Cholestasis, Bladder exstrophy, Umbilic... OMIM:301068
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Type II diabetes mellitus, Hepatomegaly, Hemobilia, Budd-... ORPHA:88673
Atresia Of Urethra
Megacystis, Pulmonary insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fis... ORPHA:105
Clapo Syndrome
Lymphedema, Varicose veins, Venous malformation ORPHA:168984
Hereditary Orotic Aciduria
Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Patent ductus arteriosus,... ORPHA:30
Livedoid Vasculopathy
Telangiectasia of the skin, Graves disease, Abnormal capillary morphology, Pedal edema, Diabetes ... ORPHA:542643
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Abnormality of the ureter, Renal hypoplasia/aplasia, Umbilical hernia ORPHA:1770
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ureteral duplication, Vascular dilatation, Ectopic kidney, Horseshoe kidney OMIM:602200
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Pulmonary lymphangiectasia, Chylous ascites, Palpebral edema, Nonimmun... OMIM:265300
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Stroke, Lacunar stroke, Varicose veins, Urinary incontinence OMIM:125310
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Chronic kidney disease, Facial edema, Macroscopic hematuria, Palpebral edema, P... ORPHA:567546
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Anomalous origin of the left ... ORPHA:3384
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Anterior pituitary agenesis, Biliary atresia, Pulmonic stenosi... ORPHA:2255
Bladder Exstrophy
Hypoplasia of penis, Abnormality of the ureter, Recurrent urinary tract infections, Bladder exstr... ORPHA:93930
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Pulmonary artery stenosis, Tetralogy of Fallot, Misalignment of the pu... OMIM:265380
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Generalized edema, Hydroureter, Oligohydramnios, Fetal megacystis OMIM:249210
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the ureter, Abnormality of the urethra, Renal dysplas... ORPHA:2842
Renal Nutcracker Syndrome
Vulval varicose vein, Orthostatic hypotension, Tachycardia, Hematuria, Syncope, Microscopic hemat... ORPHA:71273
Glomuvenous Malformation
Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Venous malformation, Abn... ORPHA:83454
Meckel Syndrome, Type 1
Splenomegaly, Renal agenesis, Abnormality of the ureter, Accessory spleen, Anencephaly, Coarctati... OMIM:249000
Scimitar Syndrome
Double outlet right ventricle, Anomalous pulmonary venous return, Left-to-right shunt, Left super... ORPHA:185
Trisomy 20P
Abnormality of the kidney, Abnormality of the ureter, Hypospadias, Multiple renal cysts, Abnormal... ORPHA:261318
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Ureterocele, Multicystic kidney dysplasia, Pancreatic aplasia, Elevated... ORPHA:261265
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Abnormality of the ureter, Hypoplasia of penis, Hypogonadism ORPHA:3409
Aredyld Syndrome
Type II diabetes mellitus, Hepatomegaly, Splenomegaly, Abnormality of the ureter, Type I diabetes... ORPHA:1133
Angioosteohypertrophic Syndrome
Telangiectasia of the skin, Peripheral arteriovenous fistula, Pulmonary embolism, Hematuria, Lymp... ORPHA:2346
Phakomatosis Pigmentovascularis
Arteriovenous malformation ORPHA:2875
Loeys-Dietz Syndrome 6
Carotid artery dilatation, Thoracic aortic aneurysm, Abdominal aortic aneurysm, Vertebral artery ... OMIM:619656
Cutis Marmorata Telangiectatica Congenita
Telangiectasia of the skin, Arteriovenous malformation, Multicystic kidney dysplasia, Hypothyroid... ORPHA:1556
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Splenomegaly, Hypergonadotro... OMIM:602782
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Abnormal venous morphology, Aortic dissection, Vascular dilatation, Arterial... ORPHA:1900
Gitelman Syndrome
Graves disease, Type I diabetes mellitus, Proteinuria, Primary hyperaldosteronism, Renal potassiu... ORPHA:358
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Abnormality of the kidney, Abnorm... ORPHA:141127
Varicose Veins
Varicose veins OMIM:192200
Klippel-Trenaunay-Weber Syndrome
Lymphedema, Arteriovenous fistula OMIM:149000
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bladder polyp, Intestinal bleeding, Ovarian cyst, Abnormality of the ur... OMIM:175200
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries, Venou... ORPHA:2969
Non-Acquired Panhypopituitarism
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:90695
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hydroureter, Multicystic kidney dysplasia, Polyhydramnios, Umbilical hernia, Cryptorchidism, Mega... ORPHA:2241
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arteriovenous malformation, Arrhythmia, Cerebral ischemia ORPHA:60040
Fanconi Anemia
Arteriovenous malformation, Absent testis, Abnormal carotid artery morphology, Umbilical hernia, ... ORPHA:84
Menkes Disease
Bladder diverticulum, Abnormal carotid artery morphology, Intracranial hemorrhage, Arterial steno... ORPHA:565
Exstrophy-Epispadias Complex
Bladder duplication, Cystocele, Abnormality of the kidney, Abnormality of the ureter, Bladder fis... ORPHA:322
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Arteriovenous malformation, Thyroid carcinoma, Intracranial hemorrhage, Neoplasm... ORPHA:109
Pelizaeus-Merzbacher Disease
Arteriovenous malformation, Abnormality of the urinary system ORPHA:702
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Smith-Magenis Syndrome
Precocious puberty, Renal hypoplasia/aplasia, Abnormality of the ureter, Hypothyroidism, Abnormal... ORPHA:819
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2522
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial reentry tachycardia, Dextrotransposition of the great arter... OMIM:270100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Hydroureter, Hydronephrosis, Portal hypertension, Oligohydramnios, Megacystis OMIM:619431
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:95494
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Pulmonic stenosis, Glycosuria, Ureteral duplication, Tetralogy of Fallot, Pancre... OMIM:600001
Hennekam Syndrome
Arteriovenous malformation, Chylothorax, Splenomegaly, Pulmonary lymphangiectasia, Hydrops fetali... ORPHA:2136
Cloacal Exstrophy
Myelomeningocele, Renal hypoplasia/aplasia, Hypoplasia of penis, Ureterocele, Hydroureter, Bladde... ORPHA:93929
Classic Homocystinuria
Arteriovenous malformation, Hepatomegaly, Intracranial hemorrhage, Pulmonary embolism, Cerebral i... ORPHA:394
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Abnormality of the ureter, Polyhydramnios, Abnormality of... ORPHA:3339
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Neonatal death, Polyhydramnios, Hydronephrosis, Fetal megacystis, Megacystis OMIM:619362
Schwartz-Jampel Syndrome
Nephrolithiasis, Abnormality of the urinary system, Abnormality of the ureter, Arrhythmia, Polyhy... ORPHA:800
Schinzel-Giedion Syndrome
Annular pancreas, Nephrolithiasis, Hepatoblastoma, Streak ovary, Micropenis, Hypospadias, Abnorma... ORPHA:798
Acrorenal-Mandibular Syndrome
Absent nipple, Aplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidn... OMIM:200980
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Pedal edema, Edema, Hydronephros... OMIM:236700
Ellis Van Creveld Syndrome
Renal hypoplasia/aplasia, Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydr... ORPHA:289
Superficial Siderosis
Arteriovenous malformation, Abnormal vertebral artery morphology, Subarachnoid hemorrhage, Functi... ORPHA:247245
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter, Hypogonadism ORPHA:3253
Baller-Gerold Syndrome
Abnormality of the ureter, Vesicoureteral reflux, Abnormal localization of kidney, Hydronephrosis ORPHA:1225
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage, Venous malformation ORPHA:221061
Occipital Horn Syndrome
Bladder diverticulum, Recurrent urinary tract infections, Cholestasis, Hepatitis, Vascular dilata... ORPHA:198
Microphthalmia With Limb Anomalies
Cryptorchidism, Horseshoe kidney, Venous insufficiency, Arrhinencephaly ORPHA:1106
Proteus Syndrome
Arteriovenous malformation, Ovarian neoplasm, Splenomegaly, Sudden cardiac death, Neoplasm of the... ORPHA:744
Hypermobile Ehlers-Danlos Syndrome
Cystocele, Arterial dissection, Arrhythmia, Umbilical hernia, Ascending tubular aorta aneurysm, V... ORPHA:285
Norrie Disease
Cryptorchidism, Venous insufficiency, Delayed puberty, Diabetes mellitus ORPHA:649
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Hepatomegaly, Premature ventricular contraction, Hypotension, Elevated hepatic tr... OMIM:212138
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hepatic failure, Arrhythmia, Hypotension, Oliguria, Elevated hepatic transaminase, ... ORPHA:159

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 Slc25a20

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 Slc25a20.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Slc25a20tm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Slc25a20tm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Slc25a20tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)