Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

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.


XRay Images Skull Dorso Ventral Orientation

13 Images


XRay Images Skull Lateral Orientation

14 Images


XRay Images Whole Body Dorso Ventral

14 Images


XRay Images Whole Body Lateral Orientation

14 Images


XRay Images Forepaw

14 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
Matching phenotypes Source
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hypotension, Hepatic steatosis, Ventricular extrasystoles, Ventric... OMIM:212138
Carnitine-Acylcarnitine Translocase Deficiency
Arrhythmia, Elevated hepatic transaminase, Hypotension, Ventricular tachycardia, Hepatomegaly, Ol... ORPHA:159

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

Disease Similarity of
Matching phenotypes Source
Capillary Malformation-Arteriovenous Malformation
Neurogenic bladder, Arteriovenous fistula, Cerebral arteriovenous malformation, Vein of Galen ane... ORPHA:137667
Parkes Weber Syndrome
Arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, Abnormal lym... ORPHA:90307
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Ischemic stroke, Cerebral arteriovenous malformation, Lip telangiect... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Gastrointestinal arteriovenous malformation, Cerebral arteriovenous ... OMIM:187300
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Gastrointestinal arteriovenous malformation, Cerebral arteriovenous ... OMIM:600376
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Hematochezia, Hepatic arteriovenous malformation, Mitral reg... OMIM:175050
Juvenile Polyposis Syndrome
Anasarca, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Hepatic arte... ORPHA:2929
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Phace Syndrome
Abnormal carotid artery morphology, Cerebral arteriovenous malformation, Hypothyroidism, Coarctat... ORPHA:42775
Klippel-Trénaunay Syndrome
Hydrops fetalis, Hematuria, Venous insufficiency, Gastrointestinal hemorrhage, Internal hemorrhag... ORPHA:90308
Gjc2-Related Late-Onset Primary Lymphedema
Edema of the dorsum of hands, Pedal edema, Hypoplasia of lymphatic vessels, Abnormal lymphatic ve... ORPHA:568051
Familial Multiple Nevi Flammei
Arrhythmia, Intracranial hemorrhage, Pulmonary embolism, Edema, Cerebral calcification, Arteriove... ORPHA:624
Chilblain Lupus 2
Vasculitis, Edema OMIM:614415
Milroy Disease
Hydrocele testis, Lymphedema, Pedal edema, Predominantly lower limb lymphedema, Abnormal venous m... ORPHA:79452
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Oligohydramnios, Abnormality of the ureter, Hypospadias, Ascites, Splenomegaly, M... ORPHA:1046
Ring Chromosome 8 Syndrome
Polyhydramnios, Hydronephrosis, Abnormality of the ureter ORPHA:1450
Thymic Aplasia With Fetal Death
Truncus arteriosus, Stillbirth, Renal agenesis, Ureteral agenesis, Abnormality of the endocrine s... OMIM:274210
Prune Belly Syndrome
Cryptorchidism, Renal insufficiency, Urogenital sinus anomaly, Oligohydramnios, Hydroureter, Pate... ORPHA:2970
Spinal Arteriovenous Metameric Syndrome
Urinary bladder sphincter dysfunction, Spinal arteriovenous malformation, Congestive heart failur... ORPHA:53721
Transaldolase Deficiency
Cirrhosis, Hydrops fetalis, Telangiectasia, Edema, Coarctation of aorta, Hepatosplenomegaly, Abno... ORPHA:101028
Thoracic Outlet Syndrome
Varicose veins, Edema ORPHA:97330
Reversible Cerebral Vasoconstriction Syndrome
Ischemic stroke, Intraventricular hemorrhage, Subarachnoid hemorrhage, Subdural hemorrhage, Vasos... ORPHA:284388
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Micronodular cirrhosis, Hematuria, Punctate vasculitis skin lesions, Abnormal periventricular whi... OMIM:192315
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Hypertension, Nephrotic syndrome, Edema, Splen... OMIM:105200
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Oligohydramnios, Enlarged kidney, Pancreatic cysts, Hepatic cysts, Polysplenia, Patent... OMIM:208540
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the spleen, Abnormality of the ureter ORPHA:2487
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema... OMIM:617300
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Pulmonary embolism, Abnormal cerebral vascular morphology ORPHA:745
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Supraventricular arrhythmia, Vascular dilatation, Stroke, Nephropathy, Dilatation of t... OMIM:611773
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Prominent veins on trunk, Pituitary prolactin cell adenoma,... ORPHA:97289
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Hepatic hemangioma, Congestive heart failure, Peripheral arteriovenou... ORPHA:141179
Vein Of Galen Aneurysmal Malformation
Peripheral arteriovenous fistula, Vascular dilatation, Abnormal cerebral vascular morphology ORPHA:1053
Kaposi Sarcoma
Lymphedema, Venous insufficiency, Abnormality of the spleen, Abnormality of the liver ORPHA:33276
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Pedal edema, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycardia, Varicose ... OMIM:126320
Thymic-Renal-Anal-Lung Dysplasia
Ureteral dysgenesis, Oligohydramnios, Renal agenesis, Ureteral agenesis, Abnormality of the endoc... OMIM:274265
Diabetic Embryopathy
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Abnormal aortic morphology, Spinal dys... ORPHA:1926
Meige Disease
Edema of the dorsum of hands, Lymphedema, Pleural effusion, Peripheral edema, Pedal edema, Facial... ORPHA:90186
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Polyhydramnios, Hydroureter, Patent ductus arteriosus, Abnormality of the bladder, Hypoplasia of ... ORPHA:2547
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Pulmonary embolism, Abnormal cerebral vascular morphology ORPHA:743
Enlarged Parietal Foramina
Encephalomalacia, Venous malformation, Myelomeningocele, Abnormal cerebral vein morphology ORPHA:60015
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Hematuria, Pulmonary embolism, Retinal telangiectasia, Cerebral hemo... ORPHA:774
Thymic Carcinoma
Abnormal vena cava morphology, Edema, Neoplasm of the thymus, Palpebral edema ORPHA:99868
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Pedal edema, Edema, Stillbirth OMIM:152800
Von Willebrand Disease
Venous insufficiency ORPHA:903
Lymphatic Malformation 6
Polyhydramnios, Hydrocele testis, Lymphedema, Hypothyroidism, Pleural effusion, Facial edema, Int... OMIM:616843
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Ovarian neoplasm, Neoplasm of the thyroid gland, Congestive heart failure, Arteriovenous malforma... ORPHA:137608
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral renal agenesis, Pat... OMIM:618845
Mucopolysaccharidosis Type 7
Hydrops fetalis, Lymphedema, Mucopolysacchariduria, Umbilical hernia, Hepatitis, Ascites, Arterio... ORPHA:584
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, P... ORPHA:730
Arterial Dissection-Lentiginosis Syndrome
Arterial dissection, Arteriovenous malformation ORPHA:1682
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Prune Belly Syndrome
Cryptorchidism, Oligohydramnios, Hydroureter, Urethral valve, Patent ductus arteriosus, Xerostomi... OMIM:100100
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia/aplasia, Venous malformation, Spinal dysraphism, Splenomegaly OMIM:612918
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema, Venous malformation, Varicose veins OMIM:613089
Abnormal renal morphology, Congenital malformation of the great arteries, T-wave inversion, Abnor... ORPHA:1666
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Pedal ... ORPHA:275766
Trisomy 13
Cryptorchidism, Hydrops fetalis, Multiple renal cysts, Patent ductus arteriosus, Abnormality of t... ORPHA:3378
Wyburn-Mason Syndrome
Subarachnoid hemorrhage, Epistaxis, Vascular dilatation, Cerebral hemorrhage, Peripheral arteriov... ORPHA:53719
Alagille Syndrome
Cryptorchidism, Reduced number of intrahepatic bile ducts, Peripheral pulmonary artery stenosis, ... ORPHA:52
Cardiac Valvular Defect, Developmental
Hydrops fetalis, Hydroureter, Arteria lusoria, Tricuspid regurgitation, Urethral diverticulum, Ed... OMIM:212093
Glycogen Storage Disease Iv
Polyhydramnios, Cirrhosis, Hydrops fetalis, Tubulointerstitial fibrosis, Edema, Ascites, Hepatic ... OMIM:232500
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Abnormality of the ureter ORPHA:1035
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Recurrent subcortical infarcts, Stroke, Urinary incontinence, Leukoencephalopathy, Varicose veins OMIM:125310
Capillary Malformation-Arteriovenous Malformation 1
Arteriovenous fistula, Arteriovenous malformation OMIM:608354
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Nephrolithiasis, Vascular dilatation, Hydroureter OMIM:617219
Lymphedema-Distichiasis Syndrome
Arrhythmia, Recurrent urinary tract infections, Patent ductus arteriosus, Predominantly lower lim... ORPHA:33001
Autosomal Recessive Spondylocostal Dysostosis
Cryptorchidism, Anomalous pulmonary venous return, Umbilical hernia, Abnormality of the ureter, M... ORPHA:2311
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Pyelonephritis, Renal dysplasia, Varicose veins, Nephritis, Unilateral renal atrophy OMIM:314300
Hardikar Syndrome
Elevated hepatic transaminase, Hydroureter, Patent ductus arteriosus, Recurrent urinary tract inf... OMIM:612726
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Pulmonary arteriovenous fistulas, Palpitations, Ischemic stroke, Telangiect... ORPHA:2038
Lymphedema-Distichiasis Syndrome
Arrhythmia, Lymphedema, Patent ductus arteriosus, Predominantly lower limb lymphedema, Tetralogy ... OMIM:153400
Axial Mesodermal Dysplasia Spectrum
Oligohydramnios, Abnormality of the urinary system, Abnormality of the ureter, Abnormal localizat... ORPHA:1834
Proteus Syndrome
Venous malformation, Splenomegaly OMIM:176920
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Acute kidney injury, Pericarditis, Thyroiditis, U... ORPHA:449395
Vesicoureteral Reflux 3
Polyhydramnios, Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Varicose veins, Abnormality of the kidney ORPHA:69078
Adams-Oliver Syndrome
Cirrhosis, Porencephalic cyst, Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Peri... ORPHA:974
Silver-Russell Syndrome 1
Urethral valve, Hepatocellular carcinoma, Abnormality of the ureter, Testicular seminoma, Nephrob... OMIM:180860
Currarino Syndrome
Hypospadias, Vesicoureteral reflux, Arteriovenous malformation, Hypoplasia of penis ORPHA:1552
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Vascular dilatation, Ectopic kidney, Renal agenesis, Ureteral duplication, Dila... OMIM:602200
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas
Arteriovenous fistula OMIM:600419
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Hypotension, Varicose veins, Stroke OMIM:263400
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Enlarged kidney, Ovarian serous cystadenoma, Telangiectasia of the skin, Abnorm... ORPHA:276280
Meckel Syndrome, Type 1
Cryptorchidism, Hypoplasia of the bladder, Patent ductus arteriosus, Anencephaly, Bile duct proli... OMIM:249000
Parkes weber syndrome
Arteriovenous fistula OMIM:608355
Phakomatosis Pigmentovascularis
Cerebral cortical atrophy, Cerebral calcification, Arteriovenous malformation ORPHA:2875
Atresia Of Urethra
Megacystis, Oligohydramnios, Hydroureter, Pulmonary insufficiency, Recurrent urinary tract infect... ORPHA:105
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Livedoid Vasculopathy
Graves disease, Ischemic stroke, Abnormal capillary morphology, Pedal edema, Hypertension, Telang... ORPHA:542643
Caudal Duplication
Cryptorchidism, Spina bifida, Abnormal penis morphology, Renal hypoplasia/aplasia, Ureteral dupli... ORPHA:1756
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Dilatation of the sinus of Valsalva, Stroke, Oliguria, Heart murmur, Conges... ORPHA:1054
Clapo Syndrome
Lymphedema, Venous malformation, Varicose veins ORPHA:168984
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Edema, Ascites, Non... OMIM:265300
Hereditary Orotic Aciduria
Patent ductus arteriosus, Aminoaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid cry... ORPHA:30
Genetic Transient Congenital Hypothyroidism
Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test result, Elevated ... ORPHA:226316
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Increased radioactive iodine uptake, Decreased circulating T4 level, ... ORPHA:90673
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Multiple renal cysts, Gastrointestinal hemorrhage, Abnormality of the ure... ORPHA:2869
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Umbilical hernia, Polycystic ovaries ORPHA:1770
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Anasarca, Elevated hepatic transaminase, Internal hemorrh... ORPHA:88673
Blue Rubber Bleb Nevus
Intestinal bleeding, Arteriovenous malformation ORPHA:1059
Caudal Regression Sequence
Cryptorchidism, Maternal diabetes, Renal agenesis, Arrhinencephaly, Hypertension, Abnormality of ... ORPHA:3027
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the ureter, Cerebral cortical atrophy, Renal dysplasia,... ORPHA:2842
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, P... ORPHA:3384
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Patent ductus arteriosus, Hypoplasia of the thymus, Hepatomegaly, Pulmonic stenos... OMIM:612541
Perlman Syndrome
Polyhydramnios, Cryptorchidism, Nephroblastomatosis, Interrupted aortic arch, Nephrogenic rest, E... OMIM:267000
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Oligohydramnios, Interrupted aortic arch, Aplasia/Hypoplasia o... ORPHA:2255
Bladder Exstrophy
Recurrent urinary tract infections, Umbilical hernia, Abnormality of the ureter, Vesicoureteral r... ORPHA:93930
Angioosteohypertrophic Syndrome
Hematuria, Venous insufficiency, Gastrointestinal hemorrhage, Lymphedema, Telangiectasia of the s... ORPHA:2346
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Anasarca, Albuminuria, Palpebral edema, Focal segmental glomerulosclerosis, Ple... ORPHA:567546
17Q12 Microdeletion Syndrome
Cryptorchidism, Elevated hepatic transaminase, Oligohydramnios, Cerebral atrophy, Pancreatic apla... ORPHA:261265
Glomuvenous Malformation
Abnormal renal morphology, Venous malformation, Gastrointestinal arteriovenous malformation, Arte... ORPHA:83454
Renal Nutcracker Syndrome
Hematuria, Orthostatic hypotension, Syncope, Dilatation of mesenteric artery, Microscopic hematur... ORPHA:71273
Noonan Syndrome 9
Cryptorchidism, Pulmonic stenosis, Hydroureter, Coarctation of aorta OMIM:616559
Opitz Gbbb Syndrome, Type Ii
Cryptorchidism, Cavum septum pellucidum, Abnormality of the kidney, Patent ductus arteriosus, Umb... OMIM:145410
Trisomy 20P
Cryptorchidism, Spina bifida, Multiple renal cysts, Macroorchidism, Umbilical hernia, Abnormality... ORPHA:261318
Gitelman Syndrome
Primary hyperaldosteronism, Pericardial effusion, Nocturia, Delayed puberty, Abnormal T-wave, Cer... ORPHA:358
Aredyld Syndrome
Abnormality of the ureter, Hepatomegaly, Type I diabetes mellitus, Type II diabetes mellitus, Spl... ORPHA:1133
Duodenal Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Insulinoma, Melena, Cardiogenic shock, Intesti... ORPHA:100076
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Vascular dilatation, Arterial dissection, Umbilical hernia, Congestive heart failure, Abnormal ve... ORPHA:1900
Varicose Veins
Varicose veins OMIM:192200
Histiocytosis-Lymphadenopathy Plus Syndrome
Hypergonadotropic hypogonadism, Patent ductus arteriosus, Hepatomegaly, Left superior vena cava d... OMIM:602782
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Hypogonadism, Hypoplasia of penis, Abnormality of the ureter ORPHA:3409
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Generalized edema, Fetal megacystis, Oligohydramnios, Hydroureter OMIM:249210
Pelizaeus-Merzbacher Disease
Cerebral cortical atrophy, Abnormality of the urinary system, Microcephaly, Arteriovenous malform... ORPHA:702
Nephrogenic Diabetes Insipidus
Polyhydramnios, Nephrogenic diabetes insipidus, Hyposthenuria, Hydroureter, Hypovolemia, Function... ORPHA:223
Congenital Tracheal Stenosis
Polyhydramnios, Preductal coarctation of the aorta, Oligohydramnios, Anomalous origin of left pul... ORPHA:141127
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Arrhythmia, Telangiectasia of the skin, Polymicrogyria, Cerebral ischemia, Arteriovenous malforma... ORPHA:60040
Menkes Disease
Abnormal carotid artery morphology, Venous insufficiency, Gastrointestinal hemorrhage, Intracrani... ORPHA:565
H Syndrome
Varicose veins, Enlarged kidney, Abnormal cardiovascular system physiology, Delayed puberty, Uppe... ORPHA:168569
Fanconi Anemia
Cryptorchidism, Abnormal carotid artery morphology, Hydroureter, Patent ductus arteriosus, Recurr... ORPHA:84
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Anomalous pulmonary venous re... ORPHA:185
Exstrophy-Epispadias Complex
Cryptorchidism, Spina bifida, Bladder duplication, Renal insufficiency, Horseshoe kidney, Renal h... ORPHA:322
Non-Acquired Panhypopituitarism
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Hypotension, Absence of secon... ORPHA:90695
Harrod Syndrome
Hypospadias, Cryptorchidism, Varicose veins, Renal cortical microcysts OMIM:601095
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Misalignment of the pulmonary veins, Hydroureter, Pulmonary insufficiency, Patent... OMIM:265380
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Microcephaly, Abnormality of the ureter ORPHA:2522
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Microcephaly, Arteriovenous malformation, Overriding aorta ORPHA:1110
Familial Visceral Myopathy
Megacystis, Hydroureter, Abdominal situs inversus, Umbilical hernia, Vesicoureteral reflux, Micro... ORPHA:2604
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Hydrops fetalis, Pericardial effusion, Retinal hemorrhage, Cerebral calcification... ORPHA:51608
Klippel-Trenaunay-Weber Syndrome
Lymphedema, Arteriovenous fistula OMIM:149000
X-Linked Intellectual Disability, Nascimento Type
Cryptorchidism, Hypointensity of cerebral white matter on MRI, Oligohydramnios, Abnormal cerebral... ORPHA:163956
Cutis Marmorata Telangiectatica Congenita
Hypothyroidism, Patent ductus arteriosus, Multicystic kidney dysplasia, Telangiectasia of the ski... ORPHA:1556
Proteus-Like Syndrome
Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly, Thymus hyperplasia, Venou... ORPHA:2969
Combined Pituitary Hormone Deficiencies, Genetic Forms
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absent septum pellucidum, Hyp... ORPHA:95494
Peutz-Jeghers Syndrome
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Intestinal bleeding, Bladder polyp, Bil... OMIM:175200
Hennekam Syndrome
Hydrops fetalis, Pachygyria, Horseshoe kidney, Lymphedema, Pericardial effusion, Splenomegaly, Ec... ORPHA:2136
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Polyhydramnios, Cryptorchidism, Megacystis, Hydroureter, Umbilical hernia, Multicystic kidney dys... ORPHA:2241
Toriello-Lacassie-Droste Syndrome
Polyhydramnios, Absent septum pellucidum, Abnormal penis morphology, Abnormality of the ureter, A... ORPHA:3339
Heart Defects, Congenital, And Other Congenital Anomalies
Truncus arteriosus, Interrupted aortic arch, Biliary atresia, Ureteral duplication, Patent ductus... OMIM:600001
Smith-Magenis Syndrome
Aplasia/Hypoplasia of the corpus callosum, Hypothyroidism, Abnormality of the ureter, Abnormal lo... ORPHA:819
Bannayan-Riley-Ruvalcaba Syndrome
Lymphedema, Intracranial hemorrhage, Telangiectasia, Angina pectoris, Hashimoto thyroiditis, Thyr... ORPHA:109
Cloacal Exstrophy
Spina bifida, Horseshoe kidney, Hydroureter, Ureteropelvic junction obstruction, Vesicoureteral r... ORPHA:93929
Classic Homocystinuria
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypertension... ORPHA:394
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Oligohydramnios, Bilateral renal agenesis... ORPHA:411709
Schwartz-Jampel Syndrome
Polyhydramnios, Arrhythmia, Abnormality of the urinary system, Umbilical hernia, Abnormality of t... ORPHA:800
Schinzel-Giedion Syndrome
Hypoplasia of the corpus callosum, Central hypothyroidism, Hepatoblastoma, Streak ovary, Umbilica... ORPHA:798
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Bifid ureter, Renal dysplasia, Nephroblastoma, Renal cyst, Varicose veins OMIM:617107
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Oligohydramnios, Hydroureter, Multicystic kidney dysplasia, Abnormality... ORPHA:2973
Superficial Siderosis
Abnormal vertebral artery morphology, Internal hemorrhage, Subarachnoid hemorrhage, Abnormal corp... ORPHA:247245
Acrorenal-Mandibular Syndrome
Absent nipple, Oligohydramnios, Abnormality of the ureter, Polycystic kidney dysplasia, Renal age... OMIM:200980
Ellis Van Creveld Syndrome
Cryptorchidism, Hydroureter, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia, Ab... ORPHA:289
Occipital Horn Syndrome
Recurrent urinary tract infections, Vascular dilatation, Cholestasis, Bladder diverticulum, Jaund... ORPHA:198
Baller-Gerold Syndrome
Vesicoureteral reflux, Hydronephrosis, Abnormal localization of kidney, Abnormality of the ureter ORPHA:1225
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypogonadism, Abnormality of the ureter ORPHA:3253
Mckusick-Kaufman Syndrome
Cryptorchidism, Hydroureter, Pedal edema, Hydronephrosis, Edema, Polycystic kidney dysplasia, Ves... OMIM:236700
Loeys-Dietz Syndrome 3
Arterial tortuosity, Aortic tortuosity, Aortic aneurysm, Subarachnoid hemorrhage, Mitral regurgit... OMIM:613795
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Penile Agenesis
Unilateral renal hypoplasia, Cryptorchidism, Maternal diabetes, Oligohydramnios, Hydroureter, Bil... ORPHA:49
Proteus Syndrome
Ovarian neoplasm, Long penis, Lymphedema, Sirenomelia, Macroorchidism, Neoplasm of the thymus, Su... ORPHA:744
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Cryptorchidism, Peripheral arteriovenous fistula, Arteriovenous fistulas o... ORPHA:286
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Hemothorax, Carotid cavernous fistula, Cystocele, Diffuse alveolar hemorrhage, Di... OMIM:130050
Microphthalmia With Limb Anomalies
Cryptorchidism, Arrhinencephaly, Horseshoe kidney, Venous insufficiency ORPHA:1106
Hypermobile Ehlers-Danlos Syndrome
Arrhythmia, Arterial dissection, Umbilical hernia, Cystocele, Venous insufficiency, Ascending tub... ORPHA:285
Norrie Disease
Cryptorchidism, Venous insufficiency, Cerebral cortical atrophy, Delayed puberty, Abnormality of ... ORPHA:649
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hypotension, Hepatic steatosis, Ventricular extrasystoles, Ventric... OMIM:212138
Carnitine-Acylcarnitine Translocase Deficiency
Arrhythmia, Elevated hepatic transaminase, Hypotension, Ventricular tachycardia, Hepatomegaly, Ol... ORPHA:159


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)