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
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Thymic Aplasia With Fetal Death
Truncus arteriosus OMIM:274210
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Microphthalmia, Syndromic 12
Ventricular septal defect, Anophthalmia, Hypoplastic left atrium, Microphthalmia OMIM:615524
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Anophthalmia, Microphthalmia OMIM:221950
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:619702
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus OMIM:228940
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... ORPHA:3304
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
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
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Gillespie Syndrome
Hypoplasia of the iris, Aniridia, Truncus arteriosus OMIM:206700
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Truncus arteriosus, Ab... ORPHA:401935
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:477817
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... OMIM:605376
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Catel-Manzke Syndrome
Ventricular septal defect, Dextrocardia, Overriding aorta, Coarctation of aorta OMIM:616145
Microphthalmia, Syndromic 9
Atrial septal defect, Pulmonic stenosis, Single ventricle, Anophthalmia, Coarctation of aorta, Te... OMIM:601186
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, T... ORPHA:3426
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Hypertrophic cardiomyopathy, Tr... OMIM:615415
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Adams-Oliver Syndrome 6
Ventricular septal defect, Truncus arteriosus OMIM:616589
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Cardiomegaly OMIM:617022
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... OMIM:132900
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... OMIM:614954
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... OMIM:179613
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus OMIM:617516
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anophthalmia, Microphthalmia ORPHA:77298
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Emanuel Syndrome
Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... OMIM:609029
Anencephaly 2
Anophthalmia OMIM:619452
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Trisomy 13
Atrial septal defect, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Micropht... ORPHA:3378
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Abnormal coronary artery morphology, Te... ORPHA:980
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Acrocardiofacial Syndrome
Mitral stenosis, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular sep... ORPHA:2008
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm OMIM:614823
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... OMIM:600001
Heterotaxy, Visceral, 1, X-Linked
Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double outlet right ventr... OMIM:306955
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Tetralogy of Fallot ORPHA:1381
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Situs inversus totalis, Abnorma... ORPHA:244
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Ventricular septal defect, Histiocytoid cardiomyopathy, Microphthalmia, Ove... OMIM:309801
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Emanuel Syndrome
Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... ORPHA:96170
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot, Microphthalmia ORPHA:3186
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Trisomy 1Q
Ventricular septal defect, Patent ductus arteriosus, Anophthalmia ORPHA:261344
Maternal Phenylketonuria
Double outlet right ventricle, Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot,... ORPHA:2209
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... ORPHA:371428
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Pulmonary artery hypoplasia, Anomalous origin of left coronary art... ORPHA:2326
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect OMIM:614886
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Anophthalmia, Secundum atrial septal defect OMIM:156810
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:1913
Diabetic Embryopathy
Aplasia/Hypoplasia affecting the eye, Tetralogy of Fallot, Ventricular septal defect, Transpositi... ORPHA:1926
Fetal Encasement Syndrome
Tetralogy of Fallot OMIM:613630
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot ORPHA:2184
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Pulmonic stenosis, Optic nerve hypoplasia, Pulmonary artery atresi... OMIM:301056
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Optic nerve hypoplasia, Coarctation of aort... ORPHA:508498
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Partia... OMIM:619343
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... ORPHA:1686
Apert Syndrome
Ventricular septal defect, Overriding aorta OMIM:101200
Down Syndrome
Double outlet right ventricle, Atrial septal defect, Atrioventricular canal defect, Tetralogy of ... OMIM:190685
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Aortic root aneurysm, Secundum atrial septal defect, Transpositi... OMIM:619910
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Dextroc... OMIM:264480
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Charge Syndrome
Double outlet right ventricle, Secundum atrial septal defect, Atrial septal defect, Pulmonic sten... OMIM:214800
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Anophthalmia, Truncus arteriosus, Microphthalmia ORPHA:2538
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Microp... OMIM:206900
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, C... OMIM:601005
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Aortic aneurysm ORPHA:261330
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Hypoplastic left heart, Optic nerve hypoplasia, Ventricular septal... OMIM:301043
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect OMIM:618223
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... ORPHA:3097
Diamond-Blackfan Anemia 6
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Mitral valve prolapse, Pate... OMIM:612561
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrial septal defect, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal defe... OMIM:600123
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect ORPHA:1667
X-Linked Intellectual Disability, Nascimento Type
Mitral stenosis, Double outlet right ventricle, Peripheral pulmonary artery stenosis, Tetralogy o... ORPHA:163956
Frank-Ter Haar Syndrome
Double outlet right ventricle, Atrial septal defect, Secundum atrial septal defect, Buphthalmos, ... OMIM:249420
Williams Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Peripheral pulmonary artery stenosis, ... ORPHA:904
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
22Q11.2 Deletion Syndrome
Tricuspid atresia, Abnormal pulmonary valve morphology, Atrial septal defect, Abnormal aortic val... ORPHA:567
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Partial diaphragmatic absence of pe... ORPHA:2847
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Holoprosencephaly
Abnormal pulmonary valve morphology, Anophthalmia, Tetralogy of Fallot, Ventricular septal defect... ORPHA:2162
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, Anophthalmia, Aniridia ORPHA:1101
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Transposition of the grea... ORPHA:1727
Kapur-Toriello Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Microphthalmia ORPHA:2328
Microphthalmia, Syndromic 2
Double outlet right ventricle, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, An... OMIM:300166
Fibular Hemimelia
Anophthalmia, Abnormal heart morphology ORPHA:93323
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... ORPHA:2306
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal defect, Tetral... ORPHA:251071
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Transposition of the great arteries, Atrioventricular canal defect OMIM:314390
Alagille Syndrome 2
Pulmonic stenosis, Peripheral pulmonary artery stenosis, Atrial septal defect, Tetralogy of Fallot OMIM:610205
Familial Bicuspid Aortic Valve
Aortic valve calcification, Bicuspid aortic valve, Aortic valve stenosis, Hypoplastic left heart,... ORPHA:402075
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale OMIM:616789
Charge Syndrome
Abnormal cardiac septum morphology, Anophthalmia, Abnormal aortic valve morphology, Tetralogy of ... ORPHA:138
Phace Syndrome
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Optic nerve hypoplasia, C... ORPHA:42775
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the optic nerve, Conotruncal defect, Atrioventricular canal defect ORPHA:40366
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... ORPHA:210122
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Holoprosencephaly 14
Ventricular septal defect, Aortic valve atresia, Double outlet right ventricle OMIM:619895
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the papillary muscles... ORPHA:1329
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Anophthalmia, Mitral valve prolapse... ORPHA:2556
Distal Monosomy 15Q
Mitral stenosis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Double outlet right v... ORPHA:1596
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Varicose veins OMIM:153400
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Transposition of the great arteries, Perimembranous ventricular septal defect OMIM:617877
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Microp... ORPHA:141099
Meckel Syndrome
Situs inversus totalis, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:564
Femoral-Facial Syndrome
Ventricular septal defect, Pulmonic stenosis, Truncus arteriosus OMIM:134780
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Anophthalmia, Microphthalmia ORPHA:2526
Digeorge Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch... OMIM:188400
Cat Eye Syndrome
Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Pulmonic stenosis, Tetralogy of ... OMIM:115470
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
Viss Syndrome
Tortuous cerebral arteries, Aortic tortuosity, Pulmonary artery aneurysm, Ventricular septal defe... OMIM:619472
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Optic nerve hypoplasia, Coarctation of aorta, Ventricular septal d... ORPHA:508488
Vacterl With Hydrocephalus
Anophthalmia, Microphthalmia ORPHA:3412
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Meier-Gorlin Syndrome 7
Ventricular septal defect, Complete atrioventricular canal defect, Atrial septal defect OMIM:617063
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, A... OMIM:600460
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Tetralogy of Fallot, Microphthalmia OMIM:617925
Thoracoabdominal Syndrome
Patent ductus arteriosus, Transposition of the great arteries, Ectopia cordis OMIM:313850
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Atrial septal defect, Pulmonic stenosis, Dilated cardiomyopathy, Transpositi... OMIM:253800
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Anophthalmia OMIM:605627
Joubert Syndrome 21
Anophthalmia OMIM:615636
Thakker-Donnai Syndrome
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot ORPHA:1780
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Double... ORPHA:2255
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos, Abnormal heart morphology OMIM:219000
Kleefstra Syndrome Due To 9Q34 Microdeletion
Abnormal cardiac septum morphology, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fal... ORPHA:96147
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Carpenter Syndrome 1
Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Patent d... OMIM:201000
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Pat... OMIM:618748
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tetralogy of Fallot, Ventricular ... OMIM:618280
Hamamy Syndrome
Complete atrioventricular canal defect, Atrial septal defect OMIM:611174
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Double aortic arch, Tetralogy of Fallot, Ventricular sept... ORPHA:95430
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Pulmonary valve atresia, Parachute mitr... OMIM:265380
Craniofacial Microsomia
Anophthalmia, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Patent ductus... OMIM:164210
Microphthalmia With Limb Anomalies
Venous insufficiency, True anophthalmia, Microphthalmia ORPHA:1106
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypoplastic left heart, Pulmo... OMIM:100300
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Double outlet right ventricle, Hypoplastic left heart, Muscular ventricular septal defect, Mitral... OMIM:619503
Focal Dermal Hypoplasia
Aniridia, Anophthalmia, Microphthalmia OMIM:305600
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Ventricular septal defect, Peripheral pulmonary artery stenosis, Transposition of the great arter... OMIM:280000
Facial Dysmorphism With Multiple Malformations
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot OMIM:227255
Fraser Syndrome
Anophthalmia, Microphthalmia ORPHA:2052
Doors Syndrome
Double outlet right ventricle ORPHA:79500
Hydrolethalus Syndrome 1
Ventricular septal defect, Complete atrioventricular canal defect, Microphthalmia OMIM:236680
Chime Syndrome
Ventricular septal defect, Pulmonary valve atresia, Transposition of the great arteries, Tetralog... ORPHA:3474
Microphthalmia, Syndromic 6
Anophthalmia, Microphthalmia OMIM:607932
Branchiooculofacial Syndrome
Anophthalmia, Microphthalmia OMIM:113620
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, Patent foramen ovale, Transposition of the g... OMIM:256520
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Anophthalmia, Microphthalmia OMIM:309800
Restrictive Dermopathy
Atrial septal defect, Dextrocardia, Patent ductus arteriosus, Transposition of the great arteries... ORPHA:1662
Vater/Vacterl Association
Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Tetralo... OMIM:192350
Carpenter Syndrome 2
Atrial septal defect, Situs inversus totalis, Dextrocardia, Patent ductus arteriosus, Transpositi... OMIM:614976
Simpson-Golabi-Behmel Syndrome, Type 1
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Ventricular septal defect... 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) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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