Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sorting nexin 17
Synonyms:
5830447M19Rik,  D5Ertd260e,  b2b1625.1Clo

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Snx17 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Snx17 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic valve, Transp... OMIM:612474
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Thymic Aplasia With Fetal Death
Truncus arteriosus OMIM:274210
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries, Ventricula... OMIM:231060
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Microphthalmia, Anophthalmia OMIM:615524
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Microphthalmia, Anophthalmia OMIM:221950
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect OMIM:228940
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... OMIM:618845
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventricle,... ORPHA:3304
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology, P... ORPHA:401935
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect ORPHA:2516
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... ORPHA:185
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Dextrocardia, Double outlet right ventricle, Mesocardia, Left atrial isom... OMIM:605376
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Dou... ORPHA:477817
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Catel-Manzke Syndrome
Overriding aorta, Dextrocardia, Coarctation of aorta, Ventricular septal defect OMIM:616145
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... ORPHA:3426
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Aortopulm... OMIM:208530
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Hypertrophi... OMIM:615415
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... OMIM:618316
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Right aortic arch with mirror image branching, Dextrocardia, Pulmo... OMIM:606217
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries OMIM:614779
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Dou... OMIM:179613
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... OMIM:614954
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... OMIM:132900
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Pu... OMIM:609029
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Microphthalmia, Anophthalmia ORPHA:77298
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Trisomy 13
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of ... ORPHA:3378
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Ventricular septal defect, Microphthalmia, Overriding aorta, Histiocytoid c... OMIM:309801
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Aortic Valve Disease 2
Coarctation of aorta, Calcification of the aorta, Aortic aneurysm, Bicuspid aortic valve OMIM:614823
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Aplasia/Hypoplasia of the lens ORPHA:1381
Acrocardiofacial Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Mitral stenosis, Coarctation... ORPHA:2008
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Microphthalmia, Overriding aorta ORPHA:3186
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Pu... ORPHA:96170
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:251076
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Atrial situ... ORPHA:244
Microphthalmia, Syndromic 3
Ventricular septal defect, Patent ductus arteriosus, Optic nerve hypoplasia, Microphthalmia, Anop... OMIM:206900
Hypertelorism And Tetralogy Of Fallot
Patent foramen ovale, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve, Paten... OMIM:239711
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect OMIM:614886
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Trisomy 1Q
Ventricular septal defect, Patent ductus arteriosus, Anophthalmia ORPHA:261344
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Double outlet right ventricle, Hypoplastic ... ORPHA:2209
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Double outlet right ventr... ORPHA:371428
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ... ORPHA:2326
Microgastria-Limb Reduction Defects Association
Secundum atrial septal defect, Type I truncus arteriosus, Anophthalmia OMIM:156810
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Atrial septal defect, Transposition of the great arteries, Ventricular septa... ORPHA:1913
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pulmonary artery, Tetra... ORPHA:1926
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology, Ventricular... ORPHA:1166
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2184
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
Hemifacial Microsomia
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Microphthalmia, Anopht... OMIM:164210
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, Optic nerve hypoplas... OMIM:301056
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Perimembranous ventricular s... ORPHA:508498
Renal Tubular Dysgenesis
Tetralogy of Fallot ORPHA:3033
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Septo-optic d... OMIM:301043
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Complete atrioventricular can... OMIM:264480
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology ORPHA:3405
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent foramen ovale, Tetralog... OMIM:601005
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Truncus arteriosus, Microphthalmia, Anophthalmia ORPHA:2538
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, Ventricular sept... ORPHA:3097
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Pulmonic stenosis, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect OMIM:618223
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... OMIM:612561
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrial septal defect, Ventricular septal defect, Microphthalmia, Atrioventricular canal defect, T... OMIM:600123
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Bicuspid aortic valve, Coarctation of aorta, Dilated cardiomyopathy,... OMIM:613426
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Frank-Ter Haar Syndrome
Buphthalmos, Atrial septal defect, Ventricular septal defect, Double outlet right ventricle, Abno... OMIM:249420
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Aortic aneurysm, Ventricular septal defect ORPHA:261330
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect ORPHA:1667
Giant Cell Arteritis
Pericarditis, Double outlet right ventricle with subpulmonary ventricular septal defect without p... ORPHA:397
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Abnorm... ORPHA:163956
22Q11.2 Deletion Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal ... ORPHA:567
Holoprosencephaly
Ventricular septal defect, Abnormal aortic morphology, Abnormal pulmonary valve morphology, Micro... ORPHA:2162
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Tricuspid valve prolapse, Anophthalmia ORPHA:1101
Pericardial And Diaphragmatic Defect
Partial diaphragmatic absence of pericardium, Atrial septal defect, Abnormal heart morphology, Pa... ORPHA:2847
Williams Syndrome
Abnormal carotid artery morphology, Atrial septal defect, Ventricular septal defect, Abnormal end... ORPHA:904
Kapur-Toriello Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Microphthalmia, Ventricular septal defect ORPHA:2328
Fibular Hemimelia
Abnormal heart morphology, Anophthalmia ORPHA:93323
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, ... ORPHA:1727
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Digeorge Syndrome
Right aortic arch with mirror image branching, Truncus arteriosus, Interrupted aortic arch, Ventr... OMIM:188400
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Patent ductus arteriosus, Ao... ORPHA:2306
8P23.1 Microdeletion Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology, Hypopla... ORPHA:251071
Microphthalmia, Syndromic 2
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arc... OMIM:300166
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Coarctation of ... ORPHA:402075
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries OMIM:314390
Alagille Syndrome 2
Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Peripheral pulmonary artery stenosis OMIM:610205
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Charge Syndrome
Interrupted aortic arch, Abnormal aortic valve morphology, Patent ductus arteriosus, Abnormal car... ORPHA:138
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Phace Syndrome
Abnormal carotid artery morphology, Cerebral arteriovenous malformation, Abnormal heart morpholog... ORPHA:42775
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... ORPHA:210122
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Aplasia/Hypoplasia of the optic nerve, Conotruncal defect ORPHA:40366
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Varicose veins, Patent ductus arteriosus, Ventricular septal defect OMIM:153400
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries OMIM:617877
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Distal Monosomy 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Tricuspid valve prolapse, Anophthalmia, Dilated cardiomyopathy, Mitral valve prol... ORPHA:2556
Meckel Syndrome
Situs inversus totalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:564
Femoral-Facial Syndrome
Pulmonic stenosis, Truncus arteriosus, Ventricular septal defect OMIM:134780
Charge Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Dou... OMIM:214800
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Right ventricular ... ORPHA:1329
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Microphthalmia, Anophthalmia ORPHA:2526
Down Syndrome
Complete atrioventricular canal defect OMIM:190685
8Q24.3 Microdeletion Syndrome
Truncus arteriosus, Abnormal heart morphology, Ventricular septal defect, Complete atrioventricul... ORPHA:508488
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... OMIM:618280
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Double outlet right ventricle with subpulmonary ve... ORPHA:2331
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:617063
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Tetralogy of Fallot, Microphthalmia OMIM:617925
Thoracoabdominal Syndrome
Ectopia cordis, Patent ductus arteriosus, Transposition of the great arteries OMIM:313850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Myocardial fibrosis, Pulmonic stenosis, Microphthalmia, Dilated cardiomyopa... OMIM:253800
Cerebrooculonasal Syndrome
Anophthalmia OMIM:605627
Thakker-Donnai Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect ORPHA:1780
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Joubert Syndrome 21
Anophthalmia OMIM:615636
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Interrupted aortic arch, Ventricular septal de... ORPHA:2255
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Fraser Syndrome 1
Bilateral microphthalmos, Abnormal heart morphology, Anophthalmia OMIM:219000
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Coarctation of aorta, Patent foramen ovale, Te... OMIM:618748
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Tetralogy of Fallot, Coarctation of aorta, Abnormal cardiac septum morphol... ORPHA:96147
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Carpenter Syndrome 1
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tet... OMIM:201000
Microphthalmia With Limb Anomalies
Venous insufficiency, True anophthalmia, Microphthalmia ORPHA:1106
Adams-Oliver Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Hypopl... OMIM:100300
Focal Dermal Hypoplasia
Aniridia, Microphthalmia, Anophthalmia OMIM:305600
Mckusick-Kaufman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart... ORPHA:2473
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Transposition of the great arteries, V... OMIM:280000
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Patent ductus arteriosus, Pulmonary artery stenosis, Patent ... OMIM:265380
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Kleefstra Syndrome 1
Conotruncal defect OMIM:610253
Doors Syndrome
Double outlet right ventricle ORPHA:79500
Facial Dysmorphism With Multiple Malformations
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect OMIM:227255
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Microphthalmia, Ventricular septal defect OMIM:236680
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Transposition of the great arteries, Ventricular se... ORPHA:3474
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia OMIM:113620
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Short Rib-Polydactyly Syndrome
Situs inversus totalis, Transposition of the great arteries, Abnormal heart morphology ORPHA:1505
Neu-Laxova Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Microphthalmia, Patent foramen ovale, Transp... OMIM:256520
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Microphthalmia, Anophthalmia OMIM:309800
Carpenter Syndrome 2
Atrial septal defect, Situs inversus totalis, Patent ductus arteriosus, Dextrocardia, Transpositi... OMIM:614976
Restrictive Dermopathy
Atrial septal defect, Patent ductus arteriosus, Dextrocardia, Ascending tubular aorta aneurysm, T... ORPHA:1662
Vater/Vacterl Association
Tetralogy of Fallot, Patent ductus arteriosus, Transposition of the great arteries, Ventricular s... OMIM:192350
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Cardiomyopathy, Patent ductus arteriosus, Pulmonic stenosis, Transposi... OMIM:312870

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 Snx17

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 Snx17.

No publications found that use IMPC mice or data for Snx17.

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MGI Allele Allele Type Produced
Snx17tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Snx17tm428879(L1L2_Bact_P) Targeting vectors

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