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Gene: Slc25a20 MGI:1928738

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Gene Summary

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

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
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 Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Slc25a20tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Slc25a20tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Slc25a20tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Slc25a20tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Slc25a20tm1a(EUCOMM)Wtsi
HET, Female, WTSI

View all 122 images

Slc25a20tm1a(EUCOMM)Wtsi
abnormal snout morphology, asymmetric snout, head, WT, Male, WTSI
Slc25a20tm1a(EUCOMM)Wtsi
head, abnormal snout morphology, asymmetric snout, WT, Male, WTSI
Slc25a20tm1a(EUCOMM)Wtsi
head, abnormal snout morphology, upturned snout, WT, Male, WTSI

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
Hypotension, Cardiac arrest, Elevated hepatic transaminase, Dicarboxylic aciduria, Hepatic steato... OMIM:212138
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Ventricular t... 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
Telangiectasia, Cerebral ischemia, Lymphedema, Arteriovenous malformation, Cerebral arteriovenous... ORPHA:137667
Parkes Weber Syndrome
Abnormality of the urinary system, Vascular dilatation, Bounding pulse, Urinary retention, Arteri... ORPHA:90307
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Palate tel... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ... OMIM:187300
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren... OMIM:600376
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Telangiectasia, Cerebral arteriovenous malformation, Pulmonar... OMIM:175050
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Juvenile Polyposis Syndrome
Pulmonary arterial hypertension, Hepatic arteriovenous malformation, Mucosal telangiectasiae, Tra... ORPHA:2929
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Phace Syndrome
Aortic root aneurysm, Hypothyroidism, Abnormal cerebral artery morphology, Abnormal carotid arter... ORPHA:42775
Gjc2-Related Late-Onset Primary Lymphedema
Pedal edema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Venous insufficie... ORPHA:568051
Klippel-Trénaunay Syndrome
Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Hematuria, Congestive heart failur... ORPHA:90308
Ring Chromosome 8 Syndrome
Polyhydramnios, Abnormality of the ureter, Hydronephrosis ORPHA:1450
Prune Belly Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Urogenital sinus anomaly, Multicystic kidney dys... ORPHA:2970
Milroy Disease
Pedal edema, Lymphedema, Predominantly lower limb lymphedema, Hydrocele testis, Abnormal venous m... ORPHA:79452
Spinal Arteriovenous Metameric Syndrome
Urinary bladder sphincter dysfunction, Arteriovenous malformation, Abnormality of the kidney, Con... ORPHA:53721
Familial Multiple Nevi Flammei
Pulmonary embolism, Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency, Ed... ORPHA:624
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema, Abnormal cerebral vascular morphology OMIM:152900
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Renal hypoplasia/aplasia, Hypoplasia of penis, Oligohydramnios, Hypospadias, Abno... ORPHA:1046
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... OMIM:208540
Transaldolase Deficiency
Cirrhosis, Telangiectasia, Hydrops fetalis, Abnormality of the kidney, Coarctation of aorta, Hepa... ORPHA:101028
Trichorhinophalangeal Syndrome, Type Ii
Vesicoureteral reflux, Cerebral arteriovenous malformation, Bilateral cryptorchidism, Myocardial ... OMIM:150230
Thoracic Outlet Syndrome
Edema, Varicose veins ORPHA:97330
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the spleen, Abnormality of the ureter, Hypospadias ORPHA:2487
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Hypertension, Edema, Nephropathy, Cholestasis, Hepatomegaly, Prote... OMIM:105200
Angioosteohypotrophic Syndrome
Prominent superficial veins, Edema, Venous malformation, Telangiectasia of the skin ORPHA:75508
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal hemorrhage, Telangiectasia, Macular edema, Punctate vasculitis skin lesions, Raynaud phen... OMIM:192315
Renal Hypoplasia
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... ORPHA:93101
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... ORPHA:97289
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:1053
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... OMIM:132900
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Renal agenesis, Oligohydramnios, Abnormality of the endocrine system, Ureteral... OMIM:274265
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Pedal edema, Peripheral arterial stenosis, Varicose veins, Sinus bradyc... OMIM:126320
Reversible Cerebral Vasoconstriction Syndrome
Cerebral edema, Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Transi... ORPHA:284388
Hereditary Hemorrhagic Telangiectasia
Abnormal cerebral vascular morphology, Retinal telangiectasia, Subarachnoid hemorrhage, Nephrolit... ORPHA:774
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E... OMIM:617300
Kaposi Sarcoma
Lymphedema, Abnormality of the spleen, Abnormality of the liver, Venous insufficiency ORPHA:33276
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Patent ductus arteriosus, Polyhydramnios, Hydroureter, Abnormality of the upper urinary tract, Hy... ORPHA:2547
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... ORPHA:1677
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Meige Disease
Pedal edema, Lymphedema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Pleur... ORPHA:90186
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Bilateral renal agenesis, Unilateral ren... OMIM:618845
Thymic Carcinoma
Edema, Neoplasm of the thymus, Abnormal vena cava morphology, Palpebral edema ORPHA:99868
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Venous malformation, Abnormal cerebral vein morphology ORPHA:60015
Autosomal Dominant Polycystic Kidney Disease
Aortic root aneurysm, Pancreatic cysts, Hepatic cysts, Recurrent urinary tract infections, Stage ... ORPHA:730
Diabetic Embryopathy
Abnormal aortic morphology, Spinal dysraphism, Abnormality of the pancreas, Renal hypoplasia/apla... ORPHA:1926
Lymphatic Malformation 6
Polyhydramnios, Splenomegaly, Hypothyroidism, Lymphedema, Nonimmune hydrops fetalis, Hydrocele te... OMIM:616843
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Congestive heart failure, Venous insufficiency, Neoplasm of the thyro... ORPHA:137608
Arterial Dissection-Lentiginosis Syndrome
Arteriovenous malformation, Arterial dissection ORPHA:1682
Mucopolysaccharidosis Type 7
Hydrops fetalis, Lymphedema, Arteriovenous malformation, Hepatitis, Mucopolysacchariduria, Ascite... ORPHA:584
Capillary Malformation-Arteriovenous Malformation 1
Arteriovenous malformation, Arteriovenous fistula OMIM:608354
Dural Sinus Malformation
Cerebellar hemorrhage, Cerebral edema, Vascular dilatation, Cerebral hemorrhage, Carotid cavernou... ORPHA:97339
Proteus Syndrome
Splenomegaly, Venous malformation OMIM:176920
Prune Belly Syndrome
Patent ductus arteriosus, Congenital posterior urethral valve, Hydroureter, Oligohydramnios, Xero... OMIM:100100
Von Willebrand Disease
Venous insufficiency ORPHA:903
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation, Lymphedema OMIM:613089
Wyburn-Mason Syndrome
Vascular dilatation, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Arteriovenous ma... ORPHA:53719
Dextrocardia
Pancreatic hypoplasia, Abnormal EKG, T-wave inversion, Abnormality of abdominal situs, Abnormalit... ORPHA:1666
Trisomy 13
Patent ductus arteriosus, Hydrops fetalis, Abnormality of the ureter, Multiple renal cysts, Crypt... ORPHA:3378
Alagille Syndrome
Nephrotic syndrome, Renal hypoplasia/aplasia, Telangiectasia of the skin, Hypertension, Spina bif... ORPHA:52
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Spina bifida occulta, Anomalous pulmonary venous return, Abnormality of the ureter, ... ORPHA:2311
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Ischemic stroke, Hemothora... ORPHA:2038
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, Umbilical hernia ORPHA:1035
Erythrocytosis, Familial, 2
Pulmonary arterial hypertension, Hypotension, Elevated circulating erythropoietin concentration, ... OMIM:263400
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Renal dysplasia, Unilateral renal atrophy, Pyelonephritis, Nephritis, Cryptorchidism, Varicose veins OMIM:314300
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Spinal dysraphism, Venous malformation, Renal hypoplasia, Splenomegaly OMIM:612918
Caudal Regression Syndrome
Vesicoureteral reflux, Arrhinencephaly, Maternal diabetes, Renal agenesis, Hypertension, Ectopic ... ORPHA:3027
Foix-Alajouanine Syndrome
Urinary incontinence, Urinary retention, Neurogenic bladder, Myelopathy, Arteriovenous fistula, C... ORPHA:79093
Adams-Oliver Syndrome
Pulmonary arterial hypertension, Cirrhosis, Encephalocele, Arteriovenous malformation, Gastrointe... ORPHA:974
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Glomerulopathy, Tubulointerstitial nephritis, Renal duplication, Recurr... ORPHA:33001
Silver-Russell Syndrome 1
Nephroblastoma, Decreased response to growth hormone stimulation test, Congenital posterior ureth... OMIM:180860
Aneurysm Of Sinus Of Valsalva
Heart murmur, Congestive heart failure, Aortic regurgitation, Edema, Oliguria, Stroke, Dilatation... ORPHA:1054
Axial Mesodermal Dysplasia Spectrum
Abnormality of the liver, Renal hypoplasia/aplasia, Oligohydramnios, Renal cyst, Abnormality of t... ORPHA:1834
Currarino Syndrome
Arteriovenous malformation, Vesicoureteral reflux, Hypospadias, Hypoplasia of penis ORPHA:1552
Blue Rubber Bleb Nevus
Arteriovenous malformation, Intestinal bleeding ORPHA:1059
Hepatocellular Carcinoma
Hypotension, Pedal edema, Hemobilia, Abnormality of the liver, Liver abscess, Hepatic necrosis, J... ORPHA:88673
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Abnormality of the gallbladder, Renal cel... ORPHA:2869
Vesicoureteral Reflux 3
Polyhydramnios, Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicour... OMIM:613674
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormal cerebral vascular morphology, Enlarged kidney, Hydrocele testis, Ovarian... ORPHA:276280
Hardikar Syndrome
Hypoplasia of the bladder, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly... OMIM:301068
Atresia Of Urethra
Vesicoureteral reflux, Pulmonary insufficiency, Renal insufficiency, Recurrent urinary tract infe... ORPHA:105
Hereditary Orotic Aciduria
Patent ductus arteriosus, Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Orotic acid c... ORPHA:30
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Pedal edema, Sclerosing cholangitis, Pericarditis, Renal interstitia... ORPHA:449395
Clapo Syndrome
Varicose veins, Venous malformation, Lymphedema ORPHA:168984
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Pedal edema, Microscopic hematuria, Stage 5 chronic kidney disease, Minimal c... ORPHA:567546
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Pedal edema, Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Pleural effus... OMIM:265300
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Polycystic ovaries, Abnormality of the ureter, Umbilical hernia ORPHA:1770
Livedoid Vasculopathy
Pedal edema, Ischemic stroke, Abnormal capillary morphology, Hypertension, Venous insufficiency, ... ORPHA:542643
Ventriculomegaly With Defects Of The Radius And Kidney
Vascular dilatation, Renal agenesis, Ectopic kidney, Horseshoe kidney, Ureteral duplication OMIM:602200
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Tachycardia, Pulmonary artery stenosis, Interrupted... ORPHA:3384
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Pancreatic hypoplasia, Biliary atresia, Neonatal insulin-dependent diab... ORPHA:2255
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis, Generalized edema, Oligohydramnios OMIM:249210
Bladder Exstrophy
Vesicoureteral reflux, Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnor... ORPHA:93930
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Asplenia, Nonimmune hydrops fetalis, Pulmonary artery dilatation, Pleural effusio... OMIM:265380
Scimitar Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Pulmonary arterial hypertension, Truncus... ORPHA:185
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Lymphedema, Predominantly lower limb lymphedema, Nonimmune hydrops feta... OMIM:153400
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Elevated hepatic transaminase, Oligohydra... ORPHA:261265
Renal Nutcracker Syndrome
Dilatation of mesenteric artery, Vulval varicose vein, Syncope, Hematuria, Tachycardia, Renal art... ORPHA:71273
Penoscrotal Transposition
Renal dysplasia, Penoscrotal transposition, Renal agenesis, Hypospadias, Abnormality of the urete... ORPHA:2842
Meckel Syndrome, Type 1
Patent ductus arteriosus, Asplenia, Vascular dilatation, Hypoplasia of the bladder, Anencephaly, ... OMIM:249000
Glomuvenous Malformation
Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Abnormal renal morpholog... ORPHA:83454
Aredyld Syndrome
Type II diabetes mellitus, Type I diabetes mellitus, Abnormality of the ureter, Hepatomegaly, Spl... ORPHA:1133
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Hypoplasia of penis, Hypogonadism, Cryptorchidism ORPHA:3409
Phakomatosis Pigmentovascularis
Arteriovenous malformation ORPHA:2875
Trisomy 20P
Macroorchidism, Spina bifida, Abnormality of the kidney, Abnormality of the ureter, Hypospadias, ... ORPHA:261318
Congenital Megacalycosis
Dilatation of renal calices, Tubulointerstitial nephritis, Recurrent urinary tract infections, En... ORPHA:93109
Cutis Marmorata Telangiectatica Congenita
Patent ductus arteriosus, Hypothyroidism, Multicystic kidney dysplasia, Arteriovenous malformatio... ORPHA:1556
Loeys-Dietz Syndrome 6
Abdominal aortic aneurysm, Vertebral artery aneurysm, Carotid artery dissection, Carotid artery d... OMIM:619656
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Vascular dilatation, Aortic aneurysm, Arterial dissection, Congestive heart failure, Arterial rup... ORPHA:1900
Angioosteohypertrophic Syndrome
Pulmonary embolism, Lymphedema, Hematuria, Congestive heart failure, Venous insufficiency, Periph... ORPHA:2346
Gitelman Syndrome
Parathyroid adenoma, Pericardial effusion, Neoplasm of the pancreas, Graves disease, Palpitations... ORPHA:358
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Polyhyd... ORPHA:141127
Proteus-Like Syndrome
Venous insufficiency, Polycystic ovaries, Abnormality of the parathyroid gland, Thymus hyperplasi... ORPHA:2969
Peutz-Jeghers Syndrome
Bladder polyp, Neoplasm of the pancreas, Biliary tract abnormality, Abnormality of the ureter, In... OMIM:175200
Varicose Veins
Varicose veins OMIM:192200
Klippel-Trenaunay-Weber Syndrome
Arteriovenous fistula, Lymphedema OMIM:149000
Non-Acquired Panhypopituitarism
Hypotension, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:90695
Cardiac Valvular Dysplasia 1
Hydronephrosis, Left aortic arch with cervical origin of the right subclavian artery, Hydrops fet... OMIM:212093
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Arteriovenous malformation, Telangiectasia of the skin, Cerebral ischemia, Arrhythmia ORPHA:60040
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Polyhydramnios, Multicystic kidney dysplasia, Hydroureter, Megacystis, Cryptorchidism, Umbilical ... ORPHA:2241
Fanconi Anemia
Abnormal testis morphology, Abnormal carotid artery morphology, Hypertrophic cardiomyopathy, Abno... ORPHA:84
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Neoplasm of the adrenal cortex, Thyroid carcinoma, Lymphedema, Arteriovenous malf... ORPHA:109
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Exstrophy-Epispadias Complex
Vesicoureteral reflux, Urinary incontinence, Renal duplication, Bladder exstrophy, Absent penis, ... ORPHA:322
Pelizaeus-Merzbacher Disease
Arteriovenous malformation, Abnormality of the urinary system ORPHA:702
Menkes Disease
Vascular dilatation, Abnormal carotid artery morphology, Bladder diverticulum, Intracranial hemor... ORPHA:565
Smith-Magenis Syndrome
Hypothyroidism, Precocious puberty, Renal hypoplasia/aplasia, Delayed puberty, Abnormality of the... ORPHA:819
Heterotaxy, Visceral, 5, Autosomal
Patent ductus arteriosus, Double outlet right ventricle, Atrial reentry tachycardia, Ascending tu... OMIM:270100
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Hennekam Syndrome
Hydrops fetalis, Lymphedema, Arteriovenous malformation, Pericardial effusion, Pulmonary lymphang... ORPHA:2136
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:95494
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Truncus art... OMIM:600001
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Hydroureter, Oligohydramnios, Megacystis, Portal hypertension, Hydronephrosis OMIM:619431
Cloacal Exstrophy
Vesicoureteral reflux, Myelomeningocele, Spina bifida, Renal hypoplasia/aplasia, Hydroureter, Hyp... ORPHA:93929
Classic Homocystinuria
Pulmonary embolism, Cerebral ischemia, Arteriovenous malformation, Elevated hepatic transaminase,... ORPHA:394
Toriello-Lacassie-Droste Syndrome
Polyhydramnios, Epispadias, Abnormality of the bladder, Abnormality of the ureter, Hypospadias, A... ORPHA:3339
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Polyhydramnios, Hydroureter, Megacystis, Neonatal death, Fetal megacystis, Hydronephrosis OMIM:619362
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Polyhydramnios, Testicular torsion, Decreased testicular size, A... ORPHA:800
Schinzel-Giedion Syndrome
Central hypothyroidism, Nephroblastoma, Neural tube defect, Hepatoblastoma, Renal cyst, Abnormali... ORPHA:798
Acrorenal-Mandibular Syndrome
Polycystic kidney dysplasia, Absent nipple, Renal agenesis, Oligohydramnios, Abnormality of the u... OMIM:200980
Superficial Siderosis
Abnormal vertebral artery morphology, Arteriovenous malformation, Internal hemorrhage, Subarachno... ORPHA:247245
Mckusick-Kaufman Syndrome
Pedal edema, Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Edema, Cryptorchidi... OMIM:236700
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter, Hypogonadism ORPHA:3253
Ellis Van Creveld Syndrome
Renal hypoplasia/aplasia, Abnormality of the kidney, Hydroureter, Epispadias, Abnormality of the ... ORPHA:289
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Abnormal localization of kidney, Hydronephrosis ORPHA:1225
Microphthalmia With Limb Anomalies
Horseshoe kidney, Arrhinencephaly, Cryptorchidism, Venous insufficiency ORPHA:1106
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Occipital Horn Syndrome
Vascular dilatation, Recurrent urinary tract infections, Hepatitis, Jaundice, Bladder diverticulu... ORPHA:198
Proteus Syndrome
Sudden cardiac death, Pulmonary embolism, Macroorchidism, Neoplasm of the thymus, Diabetes insipi... ORPHA:744
Hypermobile Ehlers-Danlos Syndrome
Ascending tubular aorta aneurysm, Arterial dissection, Venous insufficiency, Cystocele, Arrhythmi... ORPHA:285
Norrie Disease
Diabetes mellitus, Delayed puberty, Cryptorchidism, Venous insufficiency ORPHA:649
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiac arrest, Elevated hepatic transaminase, Dicarboxylic aciduria, Hepatic steato... OMIM:212138
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Ventricular t... 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) Slc25a20tm1a(EUCOMM)Wtsi