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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 Dorso Ventral

14 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 Skull Dorso Ventral Orientation

13 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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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
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Cardiac arrest, Ventricular t... OMIM:212138
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Ventricular tachycardia, Olig... 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
Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformat... ORPHA:137667
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arteriovenous malformation, V... ORPHA:90307
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... OMIM:175050
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Neoplasm of the pancreas, Transien... ORPHA:2929
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... ORPHA:42775
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis, Polyhydramnios ORPHA:1450
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Pulmonary emb... ORPHA:90308
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Hydrourete... ORPHA:2970
Gjc2-Related Late-Onset Primary Lymphedema
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Venous insuffic... ORPHA:568051
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Splenomegaly, Abnorma... ORPHA:1046
Spinal Arteriovenous Metameric Syndrome
Abnormality of the kidney, Congestive heart failure, Spinal arteriovenous malformation, Arteriove... ORPHA:53721
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... OMIM:208540
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Abnormal cerebral vascular morphology, Lymphedema OMIM:152900
Familial Multiple Nevi Flammei
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... ORPHA:624
Transaldolase Deficiency
Abnormality of the kidney, Edema, Hydrops fetalis, Hepatosplenomegaly, Coarctation of aorta, Tela... ORPHA:101028
Trichorhinophalangeal Syndrome, Type Ii
Internal carotid artery dissection, Myocardial infarction, Cerebral arteriovenous malformation, B... OMIM:150230
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the spleen, Abnormality of the ureter, Hypospadias ORPHA:2487
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Edema, Splenomegaly, Cholestasis, Hematuria, Hypertension, Nephrotic s... OMIM:105200
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ... ORPHA:93101
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Proteinuria, Edema, Raynaud phenomeno... OMIM:192315
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Abnormality of the endocrine system, Ureteral agenesis, Ureteral dysgenesis, Olig... OMIM:274265
Thoracic Outlet Syndrome
Varicose veins, Edema ORPHA:97330
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Intracranial hemorrhage, Cerebr... ORPHA:449285
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:1053
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo... ORPHA:774
Reversible Cerebral Vasoconstriction Syndrome
Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Subarachnoid hemorrhag... ORPHA:284388
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Polyhydramnios, Patent ... ORPHA:2547
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hydrocele testis, Varicose veins, A... ORPHA:79452
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Pa... OMIM:618845
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Subdural hemorrh... ORPHA:97339
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom... ORPHA:730
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the pancreas, Spin... ORPHA:1926
Mucopolysaccharidosis Type 7
Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Mucopolysacchariduria, Arteriovenous malfor... ORPHA:584
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, Sinus bradycardia, Varicose ... OMIM:126320
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Edema, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hyperinsuline... OMIM:602579
Capillary Malformation-Arteriovenous Malformation 1
Arteriovenous fistula, Arteriovenous malformation OMIM:608354
Prune Belly Syndrome
Hydroureter, Cryptorchidism, Patent ductus arteriosus, Xerostomia, Congenital posterior urethral ... OMIM:100100
Arterial Dissection-Lentiginosis Syndrome
Arterial dissection, Arteriovenous malformation ORPHA:1682
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Congestive heart failure, Ovarian neoplasm, Arteriovenous malformation, Neo... ORPHA:137608
Alagille Syndrome
Hepatomegaly, Telangiectasia of the skin, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality o... ORPHA:52
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... ORPHA:53719
Dextrocardia
Abnormal EKG, Abnormality of the spleen, Abnormal renal morphology, Abnormality of the ureter, Ab... ORPHA:1666
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Abnormality o... OMIM:180860
Trisomy 13
Cryptorchidism, Patent ductus arteriosus, Abnormality of the ureter, Hydrops fetalis, Multiple re... ORPHA:3378
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Pulmonary Arteriovenous Malformation
Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Telangi... ORPHA:2038
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Cryptorchidism, Meningocele, Abnormality of the ureter, Anomalous pulmonary venous r... ORPHA:2311
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Abnormality of the ureter ORPHA:1035
Adams-Oliver Syndrome
Encephalocele, Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Asc... ORPHA:974
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor... ORPHA:1834
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Oliguria, Heart murmur, Stroke, Dilatation... ORPHA:1054
Atresia Of Urethra
Renal dysplasia, Pulmonary insufficiency, Renal insufficiency, Recurrent urinary tract infections... ORPHA:105
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycyst... ORPHA:2869
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Currarino Syndrome
Vesicoureteral reflux, Hypoplasia of penis, Hypospadias, Arteriovenous malformation ORPHA:1552
Blue Rubber Bleb Nevus
Intestinal bleeding, Arteriovenous malformation ORPHA:1059
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas
Arteriovenous fistula OMIM:600419
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Pedal edema, Sterile pyuria, Tubulointerstitial nephr... ORPHA:449395
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin... ORPHA:30
Foix-Alajouanine Syndrome
Neurogenic bladder, Urinary incontinence, Myelopathy, Functional abnormality of the bladder, Cerv... ORPHA:79093
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Pulmonary artery stenosis, Pa... ORPHA:2255
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovaries ORPHA:1770
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
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Minimal change glomerulonephritis, Micr... ORPHA:567546
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vascular dilatation OMIM:602200
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Maternal diabetes, Ectopic kidney, Cry... ORPHA:3027
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Telangiectasia of the skin, Patent ductus arteriosus, Arterial sten... ORPHA:1556
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Generalized edema, Hydroureter, Fetal megacystis, Oligohydramnios OMIM:249210
Bladder Exstrophy
Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V... ORPHA:93930
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Multicystic kidney dysplasia, Diabetes mellitus, Renal insufficien... ORPHA:261265
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Asplenia, Neonatal death, Hypospadias, Nonimmune hydrops fetalis, Pulmonary arter... OMIM:265380
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... ORPHA:2842
Aredyld Syndrome
Hepatomegaly, Splenomegaly, Abnormality of the ureter, Type II diabetes mellitus, Type I diabetes... ORPHA:1133
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Hypoplasia of the bladder, Renal agenesis, Malformatio... OMIM:249000
Trisomy 20P
Hypospadias, Abnormality of the kidney, Spina bifida, Cryptorchidism, Abnormality of the ureter, ... ORPHA:261318
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Hypoplasia of penis, Abnormality of the ureter, Hypogonadism ORPHA:3409
Phakomatosis Pigmentovascularis
Arteriovenous malformation ORPHA:2875
Glomuvenous Malformation
Abnormal renal morphology, Gastrointestinal arteriovenous malformation, Arteriovenous malformatio... ORPHA:83454
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Abnormality of the ureter, ... OMIM:175200
Congenital Tracheal Stenosis
Abnormality of the kidney, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct... ORPHA:141127
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... ORPHA:90695
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Abnormal cerebral vascular morphology, Hydrocele testis, Ovarian sero... ORPHA:276280
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Hydroureter, Tricuspid stenosis, Edema, Valvular pulmonary stenosis, Art... OMIM:212093
Fanconi Anemia
Abnormality of the liver, Abnormality of the hypothalamus-pituitary axis, Hypospadias, Spina bifi... ORPHA:84
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia, Arteriovenous malformation ORPHA:60040
Klippel-Trenaunay-Weber Syndrome
Arteriovenous fistula, Lymphedema OMIM:149000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Polyhydramnios, Cryptorchidism, Megacystis, Umbilical ... ORPHA:2241
Smith-Magenis Syndrome
Renal hypoplasia/aplasia, Precocious puberty, Abnormality of the ureter, Abnormal localization of... ORPHA:819
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Ureteral duplication, Diabetes mellitus, Pulmonary artery stenosis, Patent du... OMIM:600001
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Angina pectoris, Lymphedema, Telangiectasia, Intracranial hemorrh... ORPHA:109
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Spina bifida, Abnormality of the kidn... ORPHA:322
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Pelizaeus-Merzbacher Disease
Abnormality of the urinary system, Arteriovenous malformation ORPHA:702
Hennekam Syndrome
Lymphedema, Pericardial effusion, Splenomegaly, Ectopic kidney, Pulmonary lymphangiectasia, Hydro... ORPHA:2136
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Ureteral duplication, Ureteral stenosis, Asplenia, Patent ductus arte... OMIM:270100
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... ORPHA:95494
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis, Oligohydramnios OMIM:619431
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/aplasia, Myelome... ORPHA:93929
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pulmonary embolism, Int... ORPHA:394
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Polyhydramnios, Epispadias, Abnormality of the ureter, Ab... ORPHA:3339
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Polyhydramnios, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Schwartz-Jampel Syndrome
Polyhydramnios, Abnormality of the ureter, Nephrolithiasis, Umbilical hernia, Abnormality of the ... ORPHA:800
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst... ORPHA:798
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Polycystic kidn... OMIM:200980
Superficial Siderosis
Subarachnoid hemorrhage, Functional abnormality of the bladder, Abnormal vertebral artery morphol... ORPHA:247245
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter, Hypogonadism ORPHA:3253
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney ORPHA:1225
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Cryptorchidism, Ep... ORPHA:289
Proteus Syndrome
Thymus hyperplasia, Sudden cardiac death, Pulmonary embolism, Testicular neoplasm, Splenomegaly, ... ORPHA:744
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Cardiac arrest, Ventricular t... OMIM:212138
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Ventricular tachycardia, Olig... 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 PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Slc25a20tm1a(EUCOMM)Wtsi PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice. Wellcome open research (January 2016) Slc25a20tm1a(EUCOMM)Wtsi PMC5159622

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MGI Allele Allele Type Produced
Slc25a20tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Slc25a20tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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